ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) (rs200204923)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551846 SCV000649879 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-03-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 516 of the POMT1 protein (p.Gly516Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs200204923, ExAC 0.009%). This variant has not been reported in the literature in individuals with a POMT1-related disease. 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: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, this variant has uncertain impact on POMT1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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