ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)

gnomAD frequency: 0.00004  dbSNP: rs764237334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301820 SCV001491003 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-03-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 171 of the SGCD protein (p.Gly171Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005026). 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 C0"). 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.
Ambry Genetics RCV002350545 SCV002645576 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The p.G171S variant (also known as c.511G>A), located in coding exon 6 of the SGCD gene, results from a G to A substitution at nucleotide position 511. The glycine at codon 171 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002476398 SCV002791165 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-09-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135934 SCV003827647 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001301820 SCV003931865 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234032 SCV003931867 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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