ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)

gnomAD frequency: 0.00003  dbSNP: rs143816534
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001100106 SCV001256609 benign Hypokalemic periodic paralysis, type 1 2018-03-14 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.
CeGaT Center for Human Genetics Tuebingen RCV001310558 SCV001500413 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001463897 SCV001667849 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482178 SCV002797366 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-02-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449556 SCV004180355 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449557 SCV004180356 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458629 SCV004180357 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001100106 SCV004180358 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003449556 SCV004823892 likely benign Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953469 SCV004769251 likely benign CACNA1S-related disorder 2019-07-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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