ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)

gnomAD frequency: 0.00010  dbSNP: rs140924492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718903 SCV000720763 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV001242982 SCV001416110 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-06 criteria provided, single submitter clinical testing This sequence change affects codon 886 of the CACNA1S mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1S protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs140924492, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA1S-related conditions. ClinVar contains an entry for this variant (Variation ID: 510524). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
CeGaT Center for Human Genetics Tuebingen RCV001718903 SCV004042460 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CACNA1S: BP4, BP7

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