ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro)

gnomAD frequency: 0.00001  dbSNP: rs1890178559
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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 RCV001359949 SCV001555839 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2020-05-30 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with POMT2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 556 of the POMT2 protein (p.Leu556Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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