ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)

gnomAD frequency: 0.00004  dbSNP: rs141031133
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494517 SCV000581967 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000688405 SCV000816015 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262359 SCV001440192 uncertain significance Hypokalemic periodic paralysis, type 1 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004190 SCV002786270 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 2024-02-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003478 SCV004815286 uncertain significance Malignant hyperthermia, susceptibility to, 5 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 683 of the CACNA1S protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CACNA1S-related disorders in the literature. This variant has been identified in 11/282318 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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