Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_005544(IRS1):c.2911G>T(p.Gly971Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152208 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G971R) has been classified as Uncertain significance.
Verdict is Uncertain_significance.
GnomAD3 genomes AF: 0.00000657AC: 1AN: 152208Hom.: 0Cov.: 33
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at