ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg)

dbSNP: rs2131592403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823480 SCV002072947 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 criteria provided, single submitter clinical testing The missense variant p.G92R in POMT1 (NM_007171.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G92R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.G92R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 92 of POMT1 is conserved in all mammalian species. The nucleotide c.274 in POMT1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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