ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)

gnomAD frequency: 0.00004  dbSNP: rs369792621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318307 SCV000851656 uncertain significance Inborn genetic diseases 2017-04-18 criteria provided, single submitter clinical testing The p.R819W variant (also known as c.2455C>T), located in coding exon 25 of the CASK gene, results from a C to T substitution at nucleotide position 2455. The arginine at codon 819 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was observed in the unaffected father of a female proband tested by our laboratory. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001246095 SCV001419433 likely benign Intellectual disability, CASK-related, X-linked 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001592926 SCV001826352 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Observed in 0.004% (8/200477 alleles) in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24893065)
Revvity Omics, Revvity RCV001592926 SCV003834558 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing

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