ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)

gnomAD frequency: 0.11390  dbSNP: rs13374149
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246117 SCV000301847 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328056 SCV000352930 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.
GeneDx RCV000246117 SCV000519209 benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
SIB Swiss Institute of Bioinformatics RCV000246117 SCV000803583 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511069 SCV001718250 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454753 SCV004181045 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454754 SCV004181046 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458380 SCV004181047 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000328056 SCV004181048 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003454753 SCV004360324 benign Malignant hyperthermia, susceptibility to, 5 2018-03-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003454753 SCV004837737 benign Malignant hyperthermia, susceptibility to, 5 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713436 SCV005288049 benign not provided criteria provided, single submitter not provided

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