ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1639C>A (p.Leu547Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004601059 SCV005096371 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-04-25 criteria provided, single submitter clinical testing The p.L547M variant (also known as c.1639C>A), located in coding exon 5 of the CASR gene, results from a C to A substitution at nucleotide position 1639. The leucine at codon 547 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023599 SCV005657419 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2024-04-15 criteria provided, single submitter clinical testing

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