ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)

dbSNP: rs1287079817
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000853588 SCV000996555 likely pathogenic Hypokalemic periodic paralysis, type 1 2023-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310556 SCV001500410 likely pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing CACNA1S: PM1, PM2, PM5, PP3, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001869308 SCV002168517 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-03-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 692246). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg897 amino acid residue in CACNA1S. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18835861, 22901280). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1S protein function. This missense change has been observed in individual(s) with periodic paralysis (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 897 of the CACNA1S protein (p.Arg897Thr).
Genome-Nilou Lab RCV003453774 SCV004177831 likely pathogenic Malignant hyperthermia, susceptibility to, 5 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000853588 SCV004177832 likely pathogenic Hypokalemic periodic paralysis, type 1 2023-04-11 criteria provided, single submitter clinical testing

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