ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.492+5T>A

gnomAD frequency: 0.00001  dbSNP: rs200277155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699862 SCV000828592 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319091 SCV001185118 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-07-08 criteria provided, single submitter clinical testing The c.492+5T>A intronic variant results from a T to A substitution 5 nucleotides after coding exon 2 in the CASR gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268260 SCV002550871 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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