ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu)

dbSNP: rs2131922893
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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 RCV001934367 SCV002211330 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2021-10-20 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 668 of the POMT1 protein (p.Pro668Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with POMT1-related conditions. This variant is not present in population databases (ExAC no frequency).

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