ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)

gnomAD frequency: 0.00240  dbSNP: rs111033479
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 RCV000041848 SCV000065544 benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Gly160Ser in exon 2 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (85/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs111033479).
Eurofins Ntd Llc (ga) RCV000041848 SCV000227597 likely benign not specified 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000881175 SCV000515231 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Invitae RCV000881175 SCV001024329 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099313 SCV001255758 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001099314 SCV001255759 likely benign Usher syndrome type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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.