ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.20+6T>G

dbSNP: rs1013252106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206867 SCV001378198 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-10-04 criteria provided, single submitter clinical testing 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. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. ClinVar contains an entry for this variant (Variation ID: 937771). Variants that disrupt 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. 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.
Baylor Genetics RCV003473752 SCV004203082 uncertain significance Gastrointestinal stromal tumor 2022-06-29 criteria provided, single submitter clinical testing

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