ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.72+5G>A (rs878854581)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226011 SCV000287786 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2015-12-17 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the SDHB mRNA. It does not directly change the encoded amino acid sequence of the SDHB protein. This variant affects a highly conserved nucleotide within the consensus splice site of intron 1 The majority of introns (75-85%) have a G at this position (PMID: 9536098). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHB-related disease. Nucleotide substitutions at +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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