Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001243787.2(SMUG1):c.410G>C(p.Ser137Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
SMUG1 (HGNC:17148): (single-strand-selective monofunctional uracil-DNA glycosylase 1) This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]
Review Status: criteria provided, single submitter
Collection Method: clinical testing
The c.410G>C (p.S137T) alteration is located in exon 1 (coding exon 1) of the SMUG1 gene. This alteration results from a G to C substitution at nucleotide position 410, causing the serine (S) at amino acid position 137 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Gain of catalytic residue at V136 (P = 0.0014);Gain of catalytic residue at V136 (P = 0.0014);Gain of catalytic residue at V136 (P = 0.0014);Gain of catalytic residue at V136 (P = 0.0014);