ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.20+98C>T

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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 RCV002795515 SCV003030479 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-10-19 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. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. 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 falls in intron 1 of the SDHC gene. It does not directly change the encoded amino acid sequence of the SDHC protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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