ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)

gnomAD frequency: 0.00003  dbSNP: rs199980578
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544351 SCV000638006 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 382 of the CASR protein (p.Asp382Asn). This variant is present in population databases (rs199980578, gnomAD 0.01%). 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: 463892). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002330870 SCV001178530 uncertain significance Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2022-11-23 criteria provided, single submitter clinical testing The p.D382N variant (also known as c.1144G>A), located in coding exon 3 of the CASR gene, results from a G to A substitution at nucleotide position 1144. The aspartic acid at codon 382 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and asparagine is the reference amino acid in other 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003144333 SCV002010664 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491010 SCV002798227 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2022-01-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144333 SCV003829246 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing
GeneDx RCV003144333 SCV003925941 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing Identified heterozygous in a patient with familial hypocalciuric hypercalcemia (Shaw-Jone et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35789394)

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