ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.677del (p.Phe226fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042429 SCV001206108 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-10-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHB gene (p.Phe226Serfs*22). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 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 conditions. This variant disrupts the C-terminus of the SDHB protein. Other variant(s) that disrupt this region (p.Ser239Tyrfs*8, deletion of exon 8) have been determined to be pathogenic (PMID: 15328326, 14685938, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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