ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn)

gnomAD frequency: 0.00008  dbSNP: rs775560235
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 RCV001039248 SCV001202770 uncertain significance Hypertrophic cardiomyopathy 14 2022-10-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH6 protein function. ClinVar contains an entry for this variant (Variation ID: 837827). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs775560235, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1060 of the MYH6 protein (p.Asp1060Asn).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170240 SCV001332800 likely benign Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320244 SCV002609281 uncertain significance Cardiovascular phenotype 2022-05-12 criteria provided, single submitter clinical testing The p.D1060N variant (also known as c.3178G>A), located in coding exon 22 of the MYH6 gene, results from a G to A substitution at nucleotide position 3178. The aspartic acid at codon 1060 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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.