ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003235529 SCV003933638 pathogenic not provided 2023-09-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 824 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35904121, 27934915, 32615693, 35664296, 23621943, 30138938)
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270394 SCV001450677 pathogenic Floating-Harbor syndrome 2020-09-22 no assertion criteria provided clinical testing

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