ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.535G>A (p.Val179Met)

gnomAD frequency: 0.00002  dbSNP: rs139072866
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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 RCV001248060 SCV001421524 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 179 of the SGCG protein (p.Val179Met). This variant is present in population databases (rs139072866, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 972107). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SGCG 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 RCV002469363 SCV002765974 uncertain significance not specified 2022-11-22 criteria provided, single submitter clinical testing Variant summary: SGCG c.535G>A (p.Val179Met) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251468 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.535G>A in individuals affected with Limb-Girdle Muscular Dystrophy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and both laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV001248060 SCV003819958 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248060 SCV002086104 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-04-20 no assertion criteria provided clinical testing

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