ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)

gnomAD frequency: 0.00001  dbSNP: rs267606970
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570621 SCV001794946 likely pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31069529, 27535533, 16701995, 18513969, 11053679, 17878207, 19299310)
PreventionGenetics, part of Exact Sciences RCV003415634 SCV004114012 likely pathogenic POMT2-related disorder 2022-09-01 criteria provided, single submitter clinical testing The POMT2 c.1057G>A variant is predicted to result in the amino acid substitution p.Gly353Ser. This variant was reported as causative in the compound heterozygous state in two patients with congenital muscular dystrophy with brain and eye anomalies (Mercuri et al. 2006. PubMed ID: 16701995; Godfrey et al. 2007. PubMed ID:17878207; Messina et al. 2008. PubMed ID: 18513969). This variant was observed in the homozygous or heterozygous states along with another pathogenic variant in three patients undergoing congenital muscular dystrophy testing at PreventionGenetics. This variant is reported in 0.0035% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-77762566-C-T). This variant is interpreted as likely pathogenic.
Baylor Genetics RCV000003387 SCV004204109 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2023-06-14 criteria provided, single submitter clinical testing
OMIM RCV000003387 SCV000023545 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2006-07-01 no assertion criteria provided literature only
OMIM RCV000030875 SCV000023547 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 2009-05-26 no assertion criteria provided literature only

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