ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.810C>T (p.Phe270=)

gnomAD frequency: 0.00013  dbSNP: rs374146214
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037056 SCV000060712 likely benign not specified 2013-01-25 criteria provided, single submitter clinical testing Phe270Phe in exon 7 of MYH14: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the conserved splice consensus sequence, and it has been identified in 0.01% (1/8600) of European American chromosomes from a broad population by the NHLBI E xome Sequencing Project (http://evs.gs.washington.edu/EVS/).
GeneDx RCV000037056 SCV000720715 likely benign not specified 2017-07-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003407406 SCV004140502 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing MYH14: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003407406 SCV004548059 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing This sequence change affects codon 262 of the MYH14 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH14 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs374146214, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with MYH14-related conditions. ClinVar contains an entry for this variant (Variation ID: 44080). 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.

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.