ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.304G>A (p.Val102Ile)

dbSNP: rs1266940329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235481 SCV001408170 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 102 of the SGCA protein (p.Val102Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine 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 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 isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987804 SCV004804370 uncertain significance not specified 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001235481 SCV002087555 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-07-29 no assertion criteria provided clinical testing

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