ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val)

dbSNP: rs1350916629
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996907 SCV001151898 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001368832 SCV001565246 uncertain significance RYR1-Related Disorders 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 4463 of the RYR1 protein (p.Ala4463Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This missense change has been observed in individual(s) with autosomal dominant RYR1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 808568). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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.