ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2965G>A (p.Glu989Lys)

gnomAD frequency: 0.00004  dbSNP: rs369774403
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000704899 SCV000833871 uncertain significance Hypertrophic cardiomyopathy 14 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 989 of the MYH6 protein (p.Glu989Lys). This variant is present in population databases (rs369774403, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 581153). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MYH6 protein function with a positive predictive value of 80%. 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223243 SCV002501047 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440533 SCV002749151 uncertain significance Cardiovascular phenotype 2021-07-16 criteria provided, single submitter clinical testing The c.2965G>A (p.E989K) alteration is located in exon 23 (coding exon 21) of the MYH6 gene. This alteration results from a G to A substitution at nucleotide position 2965, causing the glutamic acid (E) at amino acid position 989 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.