ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.179+3405A>G

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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 RCV002828842 SCV003215639 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-06-20 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 is associated with altered splicing resulting in unknown protein product impact (Invitae). 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 3 of the SDHC gene. It does not directly change the encoded amino acid sequence of the SDHC protein.

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