ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=)

gnomAD frequency: 0.00657  dbSNP: rs16847664
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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 RCV000249871 SCV000301811 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347584 SCV000353065 benign Hypokalemic periodic paralysis, type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000249871 SCV000519364 benign not specified 2016-07-15 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.
Invitae RCV001079991 SCV000653657 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711139 SCV000841467 benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456018 SCV004178931 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454732 SCV004178932 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458365 SCV004178933 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000347584 SCV004178934 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003456018 SCV004360376 benign Malignant hyperthermia, susceptibility to, 5 2019-03-29 criteria provided, single submitter clinical testing

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