ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.242del (p.Pro81fs) (rs878854591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228216 SCV000287818 pathogenic Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1 2016-03-17 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 3 of the SDHD mRNA (c.242delC), causing a frameshift at codon 81. This creates a premature translational stop signal (p.Pro81Argfs*5) and is expected to result in an absent or disrupted protein product. Truncating variants in SDHD are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with paraganglioma (PMID: 19454582). This variant is also referred to as c.242del* in the literature. For these reasons, this variant has been classified as Pathogenic.

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