ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)

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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 RCV002862369 SCV003227158 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-08-01 criteria provided, single submitter clinical testing This variant, c.66_74del, results in the deletion of 3 amino acid(s) of the SDHC protein (p.Cys23_Arg25del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. 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.

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