ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.127A>T (p.Met43Leu)

dbSNP: rs2127716663
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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 RCV001966896 SCV002250110 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SGCD-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 43 of the SGCD protein (p.Met43Leu). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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