ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)

gnomAD frequency: 0.00004  dbSNP: rs138768414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206885 SCV001378218 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491626 SCV002779683 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-10-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010656 SCV004824716 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 1569 of the CACNA1S protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 7/282198 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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