ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) (rs397517877)

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, Partners HealthCare Personalized Medicine RCV000041278 SCV000064969 uncertain significance not specified 2017-10-24 criteria provided, single submitter clinical testing The p.Thr814Asn variant in USH1C has been previously reported by our laboratory in the heterozygous state in two individuals with hearing loss, including one wi th an alternate etiology. In addition, this variant has been identified in 0.018 % (23/126690) European chromosomes by the Genome Aggregation Database (gnomAD, h ttp://gnomad.broadinstitute.org; dbSNP rs397517877). Although this variant has b een seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr814Asn variant is uncertain. ACMG/AMP Crit eria applied: BP5 (Richards 2015).
Illumina Clinical Services Laboratory,Illumina RCV000357317 SCV000369467 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397022 SCV000369468 uncertain significance Usher syndrome, type 1C 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Counsyl RCV000669750 SCV000794532 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-09-28 criteria provided, single submitter 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.