ClinVar Miner

Submissions for variant NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)

dbSNP: rs1064794019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480594 SCV000567600 pathogenic not provided 2022-11-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25533962, 34688657, 28191890, 28135719, 28628100, 28867141, 31785789)
Institute of Human Genetics, University of Leipzig Medical Center RCV001253088 SCV001428615 uncertain significance Intellectual disability, autosomal dominant 34 2016-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001253088 SCV002017462 pathogenic Intellectual disability, autosomal dominant 34 2020-12-04 criteria provided, single submitter clinical testing
OMIM RCV001253088 SCV000222904 pathogenic Intellectual disability, autosomal dominant 34 2015-03-12 no assertion criteria provided literature only

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