ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)

gnomAD frequency: 0.00001  dbSNP: rs191040430
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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 RCV000636849 SCV000758290 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 116 of the SGCG protein (p.Arg116Cys). This variant is present in population databases (rs191040430, gnomAD 0.03%). 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: 530809). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000636849 SCV001158136 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-01-23 criteria provided, single submitter clinical testing The SGCG c.346C>T; p.Arg116Cys variant (rs191040430), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 530809). This variant is found in the Latino population with an overall allele frequency of 0.03% (11/35418 alleles) in the Genome Aggregation Database. The arginine at codon 116 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg116Cys variant is uncertain at this time.
Natera, Inc. RCV000636849 SCV001453873 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-04-19 no assertion criteria provided clinical testing

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