ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.387G>C (p.Trp129Cys)

dbSNP: rs981049067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477028 SCV000546037 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2019-03-06 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 407059). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with cysteine at codon 129 of the SDHC protein (p.Trp129Cys). The tryptophan residue is weakly conserved and there is a large physicochemical difference between tryptophan and cysteine.
GeneDx RCV001770321 SCV001993167 uncertain significance not provided 2019-08-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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