ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn)

gnomAD frequency: 0.00005  dbSNP: rs201435578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551457 SCV000647901 likely benign Intellectual disability, CASK-related, X-linked 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316565 SCV000849830 uncertain significance Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The p.D471N variant (also known as c.1411G>A), located in coding exon 15 of the CASK gene, results from a G to A substitution at nucleotide position 1411. The aspartic acid at codon 471 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001551811 SCV001772396 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing

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