ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.620_621del (p.Leu207fs) (rs1060503752)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471748 SCV000553983 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2016-07-02 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 6 of the SDHB mRNA (c.620_621delTG), causing a frameshift at codon 207. This creates a premature translational stop signal (p.Leu207Argfs*14) and is expected to result in an absent or disrupted protein product. Truncating variants in SDHB are known to be pathogenic. This variant has been reported in the literature in individuals affected with pheochromocytomas (PCC) and/or paragangliomas (PGL) (PMID: 14500403, 19454582, 16314641, 25405498). This variant is also known as 754-755 del tg in the literature. For these reasons, this variant has been classified as Pathogenic.

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