ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)

gnomAD frequency: 0.00002  dbSNP: rs119462983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512705 SCV003272438 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 65 of the POMT1 protein (p.Gly65Arg). This variant is present in population databases (rs119462983, gnomAD 0.002%). This missense change has been observed in individual(s) with congenital muscular dystrophy (PMID: 16575835, 16717220). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3244). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt POMT1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460408 SCV004206038 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-10-17 criteria provided, single submitter clinical testing
OMIM RCV002286389 SCV000023558 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2009-05-26 no assertion criteria provided literature only

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