ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)

gnomAD frequency: 0.00045  dbSNP: rs146136274
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319064 SCV000353136 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.
Athena Diagnostics RCV000711136 SCV000841464 benign not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001081524 SCV001002579 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711136 SCV004009920 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CACNA1S: BS2
Genome-Nilou Lab RCV003454908 SCV004179151 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454909 SCV004179152 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458417 SCV004179153 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000319064 SCV004179154 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003454908 SCV004360396 likely benign Malignant hyperthermia, susceptibility to, 5 2022-09-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.