ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.455G>T (p.Gly152Val)

dbSNP: rs1060501386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462009 SCV000546024 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-01-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 152 of the SDHC protein (p.Gly152Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHC-related disease.

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