ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)

gnomAD frequency: 0.00001  dbSNP: rs751235198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243235 SCV001416379 likely benign Intellectual disability, CASK-related, X-linked 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV002473240 SCV002769969 uncertain significance not provided 2022-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004034745 SCV004919416 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.2395G>A (p.E799K) alteration is located in exon 25 (coding exon 25) of the CASK gene. This alteration results from a G to A substitution at nucleotide position 2395, causing the glutamic acid (E) at amino acid position 799 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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