ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.190del (p.Asp64fs) (rs1553178729)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557065 SCV000644756 pathogenic Paragangliomas 4 2017-03-17 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 2 of the SDHB mRNA (c.190delG), causing a frameshift at codon 64. This creates a premature translational stop signal (p.Asp64Thrfs*13) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with pheochromocytoma or paraganglioma (PMID: 23154831). For these reasons, this variant has been classified as Pathogenic.

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