ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=)

gnomAD frequency: 0.70571  dbSNP: rs4915477
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000249332 SCV000301802 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305536 SCV000353107 benign Hypokalemic periodic paralysis, type 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.
Athena Diagnostics Inc RCV000576506 SCV000677244 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2017-06-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586319 SCV000695294 benign not provided 2016-02-11 criteria provided, single submitter clinical testing Variant summary: c.1551T>C affects a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts this variant to be benign. 4/5 in silico tools via Alamut predict no change on RNA splicing site and ESEfinder predicts a gain of binding motif for splicing enhancer. This variant was found in 70806/121258 control chromosomes (with 22620 homozygotes) from ExAC at a frequency of 0.5839285, which significantly exceeds the maximal expected frequency of a pathogenic allele (0.0000013), suggesting this variant is a benign polymorphism. Taken together, considering the high frequency in controls and lack of predicted effect on splicing, this variant was classified as Benign.
Invitae RCV000576506 SCV001720971 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000305536 SCV001775948 benign Hypokalemic periodic paralysis, type 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000586319 SCV001839892 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11940049)
Color Diagnostics, LLC DBA Color Health RCV003517152 SCV004360385 benign Malignant hyperthermia, susceptibility to, 5 2019-03-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249332 SCV001740249 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000249332 SCV001955106 benign not specified no assertion criteria provided clinical testing

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