ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.413A>T (p.Lys138Ile)

dbSNP: rs1760869370
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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 RCV001326948 SCV001518003 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with isoleucine at codon 138 of the SGCD protein (p.Lys138Ile). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SGCD-related conditions. 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 tolerated. 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.

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