ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met)

gnomAD frequency: 0.00002  dbSNP: rs571902899
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537711 SCV000653680 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 923 of the CACNA1S protein (p.Val923Met). This variant is present in population databases (rs571902899, gnomAD 0.02%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 473980). This variant has not been reported in the literature in individuals affected with CACNA1S-related conditions.
Fulgent Genetics, Fulgent Genetics RCV000765031 SCV000896220 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403330 SCV004120653 uncertain significance CACNA1S-related condition 2023-03-24 criteria provided, single submitter clinical testing The CACNA1S c.2767G>A variant is predicted to result in the amino acid substitution p.Val923Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-201035052-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Genome-Nilou Lab RCV003451203 SCV004177811 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451204 SCV004177812 uncertain significance Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458460 SCV004177813 uncertain significance Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451202 SCV004177815 uncertain significance Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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