ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) (rs587782210)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130886 SCV000185794 pathogenic Hereditary cancer-predisposing syndrome 2013-12-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000688518 SCV000816134 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser52*) 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 observed in an individual affected with pheochromocytoma (PMID: 23512077). ClinVar contains an entry for this variant (Variation ID: 142068). Loss-of-function variants in SDHD are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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