ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.402T>C (p.Tyr134=)

dbSNP: rs2101522991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430670 SCV001633414 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298734 SCV004000794 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-31 criteria provided, single submitter clinical testing The c.402T>C variant (also known as p.Y134Y), located in coding exon 4 of the SDHB gene, results from a T to C substitution at nucleotide position 402. This nucleotide substitution does not change the at codon 134. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Direct RNA evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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