ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr)

gnomAD frequency: 0.01045  dbSNP: rs61238538
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247402 SCV000301819 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335319 SCV000353042 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000247402 SCV000525504 benign not specified 2016-07-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081542 SCV000653671 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000530662 SCV001143493 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454733 SCV004177873 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454734 SCV004177874 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458368 SCV004177875 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000335319 SCV004177876 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003454733 SCV004360367 benign Malignant hyperthermia, susceptibility to, 5 2022-10-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000530662 SCV005288081 benign not provided criteria provided, single submitter not provided

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