ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.21-1G>A

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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 RCV002797062 SCV003203391 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Other variant(s) that result in the loss of exon 2 have been determined to be pathogenic (PMID: 19454582; Invitae). This suggests that this variant may also be clinically significant and likely to be disease-causing. Studies have shown that disruption of this splice site results in skipping of exon 2 or exons 2-3, but is expected to preserve the integrity of the reading-frame (Invitae). ClinVar contains an entry for this variant (Variation ID: 1999178). 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 affects an acceptor splice site in intron 1 of the SDHC gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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