ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)

dbSNP: rs398122844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193589 SCV000246869 likely pathogenic Syndromic X-linked intellectual disability Najm type 2015-02-02 criteria provided, single submitter clinical testing
GeneDx RCV004700270 SCV005201691 likely pathogenic not provided 2023-09-02 criteria provided, single submitter clinical testing Published functional studies demonstrate impaired protein-protein interaction as well as misfolding (LaConte et al., 2014; Pan et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33090494, 23406872, 24505460, 20029458)
OMIM RCV000022829 SCV000044118 pathogenic FG syndrome 4 2010-05-01 no assertion criteria provided literature only

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