ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) (rs527702358)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000383532 SCV000353160 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275090 SCV000353161 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000590933 SCV000700136 uncertain significance Malignant hyperthermia 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of malignant hyperthermia. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Invitae RCV000704043 SCV000832976 uncertain significance Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 200 of the CACNA1S protein (p.Ala200Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs527702358, ExAC 0.009%). This variant has not been reported in the literature in individuals with CACNA1S-related disease. ClinVar contains an entry for this variant (Variation ID: 294777). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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