ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.279C>T (p.Cys93=)

dbSNP: rs2101528858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001489636 SCV001694183 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439175 SCV002747973 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-10 criteria provided, single submitter clinical testing The c.279C>T variant (also known as p.C93C), located in coding exon 3 of the SDHB gene, results from a C to T substitution at nucleotide position 279. This nucleotide substitution does not change the at codon 93. However, this change occurs in the base pair of coding exon 3, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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