ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)

gnomAD frequency: 0.10682  dbSNP: rs1801725
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152933 SCV000202363 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000152933 SCV000306963 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343555 SCV000440139 benign Familial hypocalciuric hypercalcemia 1 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000405678 SCV000440140 benign Familial hypoparathyroidism 2017-04-27 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000299158 SCV000440141 benign Neonatal severe primary hyperparathyroidism 2017-04-27 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000356249 SCV000440142 benign Autosomal dominant hypocalcemia 1 2017-04-27 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000152933 SCV000512484 benign not specified 2017-12-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000152933 SCV000612667 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152933 SCV000711769 benign not specified 2017-06-05 criteria provided, single submitter clinical testing p.Ala996Ser in exon 7 of CASR: This variant is not expected to have clinical sig nificance because it has been identified in 19.5% (3223/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1801725).
Ambry Genetics RCV002336079 SCV001178781 benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2018-08-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001510800 SCV001717931 benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-02-01 criteria provided, single submitter clinical testing
OMIM RCV000008854 SCV000029064 association Serum calcium level 2018-07-25 no assertion criteria provided literature only
Center of Medical Genetics and Primary Health Care RCV001269361 SCV001448712 benign Malignant tumor of breast no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152933 SCV001743934 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152933 SCV001929713 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000152933 SCV001954516 benign not specified no assertion criteria provided clinical testing

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