ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003165340 SCV003860428 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-18 criteria provided, single submitter clinical testing The p.S163C variant (also known as c.488C>G), located in coding exon 6 of the SDHC gene, results from a C to G substitution at nucleotide position 488. The serine at codon 163 is replaced by cysteine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778953 SCV004573877 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-02-21 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. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 163 of the SDHC protein (p.Ser163Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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