ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.780dup (p.Lys261fs) (rs1557738304)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698551 SCV000827220 likely pathogenic Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-07-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHB gene (p.Lys261Glufs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acids of the SDHB protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHB-related disease. Other truncations (p.Ile263Tyrfs*12, p.Ile263Serfs*13) that lie downstream of this variant have been reported in individuals affected with paraganglioma, pheochromocytoma or renal cell carcinoma and have been determined to be likely pathogenic (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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