ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.232A>G (p.Ile78Val)

gnomAD frequency: 0.00001  dbSNP: rs769294626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801127 SCV000940891 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-27 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 78 of the CASR protein (p.Ile78Val). This variant is present in population databases (rs769294626, gnomAD 0.006%). 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: 646771). 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.
Ambry Genetics RCV002442657 SCV002732944 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-09-07 criteria provided, single submitter clinical testing The p.I78V variant (also known as c.232A>G), located in coding exon 2 of the CASR gene, results from an A to G substitution at nucleotide position 232. The isoleucine at codon 78 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487694 SCV002785747 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-01-10 criteria provided, single submitter clinical testing

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