ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)

gnomAD frequency: 0.00001  dbSNP: rs372789934
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000152556 SCV000201772 uncertain significance not specified 2016-05-21 criteria provided, single submitter clinical testing The p.Lys210Thr variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 2/6620 6 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs372789934). Computational prediction tools and conserv ation analyses suggest that this variant may impact the protein, though this inf ormation is not predictive enough to determine pathogenicity. In summary, the cl inical significance of the p.Lys210Thr variant is uncertain.
Counsyl RCV000674723 SCV000800114 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001238924 SCV001411760 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 210 of the USH1C protein (p.Lys210Thr). This variant is present in population databases (rs372789934, gnomAD 0.004%). 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: 166393). 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: "Possibly 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. RCV001826812 SCV002076938 uncertain significance Usher syndrome type 1C 2020-03-09 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.