ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) (rs369940645)

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 of Genetics and Molecular Cardiology, University of São Paulo RCV000201453 SCV000256137 likely pathogenic Familial hypertrophic cardiomyopathy 1 criteria provided, single submitter clinical testing
Invitae RCV000456307 SCV000546212 uncertain significance Hypertrophic cardiomyopathy 2018-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1808 of the MYH7 protein (p.Gly1808Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs369940645, ExAC 0.01%). This variant was reported in several individuals affected with hypertrophic cardiomyopathy (PMID: 24093860, 27247418, Invitae) and in an individual with dilated cardiomyopathy (PMID: 19412328). ClinVar contains an entry for this variant (Variation ID: 217468). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000201453 SCV000883092 likely pathogenic Familial hypertrophic cardiomyopathy 1 2018-11-21 criteria provided, single submitter clinical testing

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.