ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del)

dbSNP: rs1404018896
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979953 SCV002219108 uncertain significance Hypertrophic cardiomyopathy 14 2024-05-09 criteria provided, single submitter clinical testing This variant, c.619_621del, results in the deletion of 1 amino acid(s) of the MYH6 protein (p.Lys207del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 1447754). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002352639 SCV002657364 uncertain significance Cardiovascular phenotype 2024-12-06 criteria provided, single submitter clinical testing The c.619_621delAAG variant (also known as p.K207del) is located in coding exon 5 of the MYH6 gene. This variant results from an in-frame AAG deletion at nucleotide positions 619 to 621. This results in the in-frame deletion of a lysine at codon 207. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002484768 SCV002788802 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-20 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992587 SCV004810344 likely pathogenic Atrial septal defect 3 2024-04-04 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.