ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.845A>G (p.Glu282Gly)

gnomAD frequency: 0.00002  dbSNP: rs751540983
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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 RCV000545591 SCV000638085 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-04-05 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223862 SCV002503401 uncertain significance not provided 2020-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023971 SCV002680768 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-01-17 criteria provided, single submitter clinical testing The c.845A>G (p.E282G) alteration is located in exon 4 (coding exon 3) of the CASR gene. This alteration results from a A to G substitution at nucleotide position 845, causing the glutamic acid (E) at amino acid position 282 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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