ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.508T>C (p.Ter170Arg)

dbSNP: rs1672555380
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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 RCV001064449 SCV001229352 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2019-02-19 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 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 disrupts the translational stop signal of the SDHC mRNA. It is expected to extend the length of the SDHC protein by 54 additional amino acid residues.

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