ClinVar Miner

Submissions for variant NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)

gnomAD frequency: 0.00005  dbSNP: rs759161435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093500 SCV001250522 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Invitae RCV002069615 SCV002326606 likely benign Intellectual disability, CASK-related, X-linked 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032000 SCV004919414 uncertain significance Inborn genetic diseases 2023-11-09 criteria provided, single submitter clinical testing The c.1090A>G (p.S364G) alteration is located in exon 12 (coding exon 12) of the CASK gene. This alteration results from a A to G substitution at nucleotide position 1090, causing the serine (S) at amino acid position 364 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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