ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.497dup (p.Ala167fs)

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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 RCV003800423 SCV004593329 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-01-18 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 affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the SDHC gene (p.Ala167Glyfs*40). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the SDHC protein and extend the protein by 36 additional amino acid residues.

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