ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.997G>A (p.Glu333Lys)

gnomAD frequency: 0.00001  dbSNP: rs1361659361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001884310 SCV002153964 likely benign Intellectual disability, CASK-related, X-linked 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386665 SCV002695442 uncertain significance Inborn genetic diseases 2018-04-10 criteria provided, single submitter clinical testing The p.E333K variant (also known as c.997G>A), located in coding exon 10 of the CASK gene, results from a G to A substitution at nucleotide position 997. The glutamic acid at codon 333 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002463059 SCV002756752 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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