ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.649G>A (p.Asp217Asn)

gnomAD frequency: 0.00001  dbSNP: rs201091657
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472371 SCV000550981 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-10-15 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 217 of the CASR protein (p.Asp217Asn). This variant is present in population databases (rs201091657, gnomAD 0.006%). This missense change has been observed in individual(s) with hypercalcemia (PMID: 36964972). ClinVar contains an entry for this variant (Variation ID: 410344). 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.
Illumina Laboratory Services, Illumina RCV001144946 SCV001305570 uncertain significance Neonatal severe primary hyperparathyroidism 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001144947 SCV001305571 uncertain significance Autosomal dominant hypocalcemia 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001144948 SCV001305572 uncertain significance Familial hypoparathyroidism 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001146896 SCV001307659 uncertain significance Familial hypocalciuric hypercalcemia 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV004022771 SCV002659161 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-11-15 criteria provided, single submitter clinical testing The p.D217N variant (also known as c.649G>A), located in coding exon 3 of the CASR gene, results from a G to A substitution at nucleotide position 649. The aspartic acid at codon 217 is replaced by asparagine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481456 SCV002793591 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2024-02-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488617 SCV004234950 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing

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