ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)

dbSNP: rs766924806
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243920 SCV001417109 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 151 of the SGCD protein (p.Ser151Phe). This variant is present in population databases (rs766924806, gnomAD 0.0009%). 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: 968720). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Fulgent Genetics, Fulgent Genetics RCV002499411 SCV002779496 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-03-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142216 SCV003827643 uncertain significance not provided 2020-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001243920 SCV003931849 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234013 SCV003931850 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671296 SCV005157069 uncertain significance Inborn genetic diseases 2024-05-22 criteria provided, single submitter clinical testing The p.S151F variant (also known as c.452C>T), located in coding exon 5 of the SGCD gene, results from a C to T substitution at nucleotide position 452. The serine at codon 151 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV003142216 SCV005396010 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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