ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.20+4A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003053590 SCV003334159 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-10-13 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. 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 may disrupt the consensus splice site. 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. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV004661544 SCV005161253 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-20 criteria provided, single submitter clinical testing The c.20+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 1 in the SDHC gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.

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