ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1287C>A (p.His429Gln)

dbSNP: rs746515147
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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 RCV000525837 SCV000638010 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-06-28 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 429 of the CASR protein (p.His429Gln). This variant is present in population databases (rs746515147, gnomAD 0.02%). This missense change has been observed in individual(s) with hypoparathyroidism and/or primary hyperparathyroidism (PMID: 31433868, 35586626). ClinVar contains an entry for this variant (Variation ID: 463895). 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 tolerated. 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 RCV004023929 SCV001171005 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-04-25 criteria provided, single submitter clinical testing The p.H429Q variant (also known as c.1287C>A), located in coding exon 3 of the CASR gene, results from a C to A substitution at nucleotide position 1287. The histidine at codon 429 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV002476143 SCV002778903 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2023-12-29 criteria provided, single submitter clinical testing

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