ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.785_786insG (p.Ile263fs) (rs1553176979)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633976 SCV000755249 likely pathogenic Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-05-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHB gene (p.Ile263Tyrfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the SDHB protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in two individuals in a family that are affected with renal cell carcinoma (Invitae). A different variant with a similar protein effect (p.Ile263Serfs*13) has also been observed in individuals with paraganglioma or pheochromocytoma (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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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