ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)

dbSNP: rs1553176966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633946 SCV000755219 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2017-12-25 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. This variant has not been reported in the literature in individuals with SDHB-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SDHB gene (p.Tyr273*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 8 amino acids of the SDHB protein.

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