ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)

gnomAD frequency: 0.00022  dbSNP: rs141717649
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544685 SCV000653652 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096377 SCV001252579 likely benign Hypokalemic periodic paralysis, type 1 2018-01-12 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.
GeneDx RCV001541570 SCV001759588 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001662588 SCV001879752 benign not specified 2020-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001541570 SCV002544350 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002491093 SCV002801276 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456091 SCV004178962 likely benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456092 SCV004178963 likely benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458456 SCV004178964 likely benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001096377 SCV004178965 likely benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003456091 SCV004360377 likely benign Malignant hyperthermia, susceptibility to, 5 2022-11-17 criteria provided, single submitter clinical testing

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