ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)

gnomAD frequency: 0.00021  dbSNP: rs200665694
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357931 SCV000353154 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000553064 SCV000653734 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996099 SCV001150571 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000357931 SCV002579993 uncertain significance Hypokalemic periodic paralysis, type 1 2022-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000996099 SCV004039735 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24195946)
Revvity Omics, Revvity RCV000996099 SCV004234911 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000996099 SCV005408567 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing

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