ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) (rs140559111)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036089 SCV000059741 uncertain significance not specified 2017-10-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val843Met var iant in MYO7A has been previously identified by our laboratory in one Caucasian individual with hearing loss. It has also been identified in 0.1% (23/22644) of South Asian chromosomes and in 72/163744 of the total chromosomes with the highe st frequency of 0.1% (23/22644) in South Asian chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs140559111). Com putational prediction tools and conservation analysis suggest that the p.Val843M et variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Val843Met variant is uncertain. ACMG/AMP Criteria applied: BP4 (Richards 2015 ).
Illumina Clinical Services Laboratory,Illumina RCV000367440 SCV000374302 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274914 SCV000374303 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318308 SCV000374304 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000658008 SCV000702277 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000658008 SCV000779779 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The V843M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 23/22644 (0.1016%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). V843M is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.