ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) (rs104894309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221327 SCV000274061 pathogenic Hereditary cancer-predisposing syndrome 2017-08-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000529506 SCV000645369 pathogenic Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys11*) in the SDHD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals and families affected with pheochromocytoma and/or paraganglioma, and the evidence suggests that there may be a founder effect in individuals of Polish ancestry (PMID: 12000816, 18826997, 29386252). ClinVar contains an entry for this variant (Variation ID: 6915). Loss-of-function variants in SDHD are known to be pathogenic (PMID: 19802898, 19454582). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007324 SCV000027522 pathogenic Pheochromocytoma 2002-05-09 no assertion criteria provided literature only

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