ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly)

dbSNP: rs1564381465
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697926 SCV000826560 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2020-06-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with POMT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 541 of the POMT1 protein (p.Ser541Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine.

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