ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)

dbSNP: rs777977731
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688694 SCV000816316 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2018-04-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1S-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1756 of the CACNA1S protein (p.Ser1756Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine.
Revvity Omics, Revvity RCV003487273 SCV003828845 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453422 SCV004180988 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453423 SCV004180989 uncertain significance Thyrotoxic periodic paralysis, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458502 SCV004180990 uncertain significance Congenital myopathy 18 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003144496 SCV004180991 uncertain significance Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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