ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)

gnomAD frequency: 0.09592  dbSNP: rs36086089
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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 RCV000041200 SCV000064891 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val825Met in Exon 18 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 14.1% (99/702) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs36086089).
PreventionGenetics, part of Exact Sciences RCV000041200 SCV000316003 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351477 SCV000408752 benign Autosomal recessive nonsyndromic hearing loss 77 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 RCV000041200 SCV000714988 benign not specified 2017-08-03 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041200 SCV001623214 likely benign not specified 2021-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515564 SCV001723661 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351477 SCV001761370 benign Autosomal recessive nonsyndromic hearing loss 77 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515564 SCV005215391 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000351477 SCV001464135 benign Autosomal recessive nonsyndromic hearing loss 77 2020-09-16 no assertion criteria provided 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.