ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)

gnomAD frequency: 0.00016  dbSNP: rs528563981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246687 SCV000301796 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372195 SCV000353120 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000863576 SCV001004266 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500845 SCV002804732 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-11-17 criteria provided, single submitter clinical testing
GeneDx RCV003332158 SCV004039635 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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