ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)

gnomAD frequency: 0.00001  dbSNP: rs200771541
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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 RCV000537669 SCV000638005 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764462 SCV000895527 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023926 SCV001178299 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-03-21 criteria provided, single submitter clinical testing The p.A364E variant (also known as c.1091C>A), located in coding exon 3 of the CASR gene, results from a C to A substitution at nucleotide position 1091. The alanine at codon 364 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. In addition, the evidence for the gene-disease relationship is limited for pancreatitis and cancer predisposition; therefore, the clinical significance of this variant for CASR-related pancreatitis and cancer predisposition is unclear. Based on the available evidence, the clinical significance of this alteration remains unclear.

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