ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) (rs550371466)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454946 SCV000538557 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: The ACMG has recommended that ONLY known pathogenic variants for MH be reported as incidental findings. LOF not a known disease mechanism for MH.
Invitae RCV000814679 SCV000955098 pathogenic Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1702*) in the CACNA1S gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs550371466, ExAC 0.04%). This variant has been observed in combination with another pathogenic CACNA1S variant in an individual affected with congenital myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 402469). Loss-of-function variants in CACNA1S are known to be pathogenic (PMID: 26247046, 28012042). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000782224 SCV000920711 uncertain significance not provided 2018-09-16 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.