ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)

gnomAD frequency: 0.00011  dbSNP: rs142652588
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, Mass General Brigham Personalized Medicine RCV000155310 SCV000204996 uncertain significance not specified 2013-12-15 criteria provided, single submitter clinical testing The Gly807Ser variant in USH1C has not been previously reported in individuals w ith hearing loss, but has been identified in 0.03% (3/8586) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs142652588). Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. In summary, additional data is neede d to determine the clinical significance of this variant.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791090 SCV000930361 uncertain significance Usher syndrome type 1C 2019-04-27 criteria provided, single submitter clinical testing
GeneDx RCV001545234 SCV001764522 uncertain significance not provided 2023-01-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002478457 SCV002779772 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 2021-09-07 criteria provided, single submitter clinical testing
Invitae RCV001545234 SCV003285216 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 507 of the USH1C protein (p.Gly507Ser). This variant is present in population databases (rs142652588, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 178562). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV000791090 SCV001462399 uncertain significance Usher syndrome type 1C 2020-04-11 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.