ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.13C>G (p.Leu5Val)

dbSNP: rs2144488329
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981335 SCV002223200 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 5 of the SGCA protein (p.Leu5Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics, Fulgent Genetics RCV001981335 SCV002806229 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001981335 SCV003931621 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001981335 SCV004237234 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-04-27 criteria provided, single submitter clinical testing

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