Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001387751.1(DMTN):āc.107A>Cā(p.Asn36Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
DMTN (HGNC:3382): (dematin actin binding protein) The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
.;.;Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);.;.;.;.;.;Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);Gain of glycosylation at N36 (P = 0.1282);.;