ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.180-3C>T

dbSNP: rs1328389180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806620 SCV002050589 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001869485 SCV002171612 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-09-29 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (ExAC 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. It affects a nucleotide within the consensus splice site of the intron.

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