ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1354A>G (p.Ile452Val)

dbSNP: rs756206452
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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 RCV000466085 SCV000550977 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-02-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 452 of the CASR protein (p.Ile452Val). This variant is present in population databases (rs756206452, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 410340). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002496781 SCV002793496 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2021-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022769 SCV005035352 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-03-11 criteria provided, single submitter clinical testing The p.I452V variant (also known as c.1354A>G), located in coding exon 3 of the CASR gene, results from an A to G substitution at nucleotide position 1354. The isoleucine at codon 452 is replaced by valine, an amino acid with highly similar properties. This amino acid position is 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 alteration remains unclear.

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