ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=)

gnomAD frequency: 0.00710  dbSNP: rs190695624
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037052 SCV000060708 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala1956Ala in Exon 42 of MYH14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.0% (68/6808) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS).
PreventionGenetics, part of Exact Sciences RCV000037052 SCV000306878 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350685 SCV000414460 benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000037052 SCV000714939 benign not specified 2017-11-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756387 SCV000884182 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000756387 SCV001102483 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756387 SCV002822591 benign not provided 2024-05-01 criteria provided, single submitter clinical testing MYH14: BP4, BP7, BS1, BS2

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.