ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.230C>A (p.Ala77Asp)

dbSNP: rs1060501393
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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 RCV000476570 SCV000546043 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2020-05-29 criteria provided, single submitter clinical testing 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 an SDHC-related disease. This sequence change replaces alanine with aspartic acid at codon 77 of the SDHC protein (p.Ala77Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. 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.

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