ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4520-3C>T

gnomAD frequency: 0.00001  dbSNP: rs549509054
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477119 SCV000546209 uncertain significance Hypertrophic cardiomyopathy 2023-12-22 criteria provided, single submitter clinical testing This sequence change falls in intron 32 of the MYH7 gene. It does not directly change the encoded amino acid sequence of the MYH7 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs549509054, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 407177). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV000776325 SCV000911659 likely benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001692129 SCV001911159 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001692129 SCV003817685 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000776325 SCV004825930 likely benign Cardiomyopathy 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639241 SCV005143044 benign Cardiovascular phenotype 2024-05-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001692129 SCV005199385 likely benign not provided 2024-02-29 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.