ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3569C>T (p.Thr1190Ile)

gnomAD frequency: 0.00004  dbSNP: rs759117852
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
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770440 SCV000901883 uncertain significance Cardiomyopathy 2017-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450866 SCV002616718 uncertain significance Cardiovascular phenotype 2024-08-19 criteria provided, single submitter clinical testing The p.T1190I variant (also known as c.3569C>T), located in coding exon 24 of the MYH6 gene, results from a C to T substitution at nucleotide position 3569. The threonine at codon 1190 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003105865 SCV003779992 uncertain significance Hypertrophic cardiomyopathy 14 2023-10-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1190 of the MYH6 protein (p.Thr1190Ile). This variant is present in population databases (rs759117852, gnomAD 0.005%). 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: 312862). 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 with a negative 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.

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.