ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.152C>G (p.Pro51Arg)

dbSNP: rs1428542772
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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 RCV002031436 SCV002309921 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-04-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SDHC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 51 of the SDHC protein (p.Pro51Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. 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").

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