ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=)

gnomAD frequency: 0.23047  dbSNP: rs4915476
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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 RCV000254329 SCV000301803 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335825 SCV000353105 benign Hypokalemic periodic paralysis, type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000254329 SCV000519215 benign not specified 2016-01-28 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.
Athena Diagnostics RCV000254329 SCV000612593 benign not specified 2017-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513367 SCV001720970 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454728 SCV004179060 benign Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456016 SCV004179061 benign Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458362 SCV004179062 benign Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000335825 SCV004179063 benign Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003454728 SCV004360383 benign Malignant hyperthermia, susceptibility to, 5 2019-03-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714558 SCV005288096 benign not provided criteria provided, single submitter not provided

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