ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.183G>C (p.Trp61Cys)

dbSNP: rs1571869120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986018 SCV001134812 uncertain significance not provided 2019-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001352348 SCV001546895 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-08-07 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 801278). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 61 of the SDHC protein (p.Trp61Cys).
Ambry Genetics RCV002409316 SCV002715078 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-01 criteria provided, single submitter clinical testing The p.W61C variant (also known as c.183G>C), located in coding exon 4 of the SDHC gene, results from a G to C substitution at nucleotide position 183. The tryptophan at codon 61 is replaced by cysteine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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