ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) (rs771753579)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779062 SCV000915528 uncertain significance Familial hypertrophic cardiomyopathy 4 2018-12-14 criteria provided, single submitter clinical testing The MYBPC3 c.2077G>T (p.Arg693Ser) missense variant has been reported in two studies in which it was identified in at least one individual with hypertrophic cardiomyopathy in a compound heterozygous state with a second missense variant (Olivotto et al. 2008; Olivotto et al. 2011). Olivotto et al. (2011) also identified the variant in an individual who carried two other variants in MYBPC3 but it is unclear if this individual is the same individual reported in Olivotto et al. (2008). The p.Arg693Ser variant is absent from 300 controls but is reported at a frequency of 0.000209 in the Latino population of the Genome Aggregation Database. The residue is conserved. Based on the limited evidence, the p.Arg693Ser is classified as a variant of unknown significance for hypertrophic cardiomyopathy.

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.