ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.474_477del (p.Thr159fs)

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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 RCV003041801 SCV003316143 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-02-28 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 frameshift has been observed in individual(s) with clinical features of paraganglioma-pheochromocytoma syndromes (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the SDHC gene (p.Thr159Cysfs*111). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the SDHC protein and extend the protein by 99 additional amino acid residues.

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