ClinVar Miner

Submissions for variant NM_001330574.2(ZNF711):c.2265_2266del (p.Cys755_Glu756delinsTer)

dbSNP: rs1603009115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003313027 SCV004012247 pathogenic not provided 2023-01-05 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on KDM5C transactivation activity (Poeta et al., 2019); Nonsense variant predicted to result in protein truncation, as the last 53 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: 34992252, 31691806, 19377476)
OMIM RCV000010416 SCV000030642 pathogenic Intellectual disability, X-linked 97 2009-05-01 no assertion criteria provided literature only

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