ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)

gnomAD frequency: 0.00001  dbSNP: rs968552859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000601443 SCV000713304 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing The p.Lys605Arg variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in (1/25142) of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomAD.broad institute.org). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ly s605Arg variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001201549 SCV001372625 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 605 of the MYO7A protein (p.Lys605Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 505864). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYO7A protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002483679 SCV002793349 uncertain significance Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955713 SCV005456083 uncertain significance Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing The c.1814A>G (p.K605R) alteration is located in exon 16 (coding exon 15) of the MYO7A gene. This alteration results from a A to G substitution at nucleotide position 1814, causing the lysine (K) at amino acid position 605 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276680 SCV001463188 uncertain significance Usher syndrome type 1B 2020-04-16 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.