ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)

gnomAD frequency: 0.00047  dbSNP: rs146445078
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 RCV000041940 SCV000065636 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing p.Val3068Ala in exon 46 of USH2A: This variant is not expected to have clinical significance because of a lack of conservation across species including mammals. Of note, rat, mouse and opossum have an alanine at this position despite high n earby amino acid conservation. It has been identified in 85/126144 of European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs146445078).
CeGaT Center for Human Genetics Tuebingen RCV000416029 SCV000493428 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000416029 SCV001417927 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000416029 SCV001782761 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing Reported in an individual with hearing loss who also harbored a nonsense variant on the same USH2A allele (in cis), however, this individual did not have an additional disease-causing variant on the opposite allele (in trans) (Tang et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25991456, 32707200, 32483926)
Myriad Genetics, Inc. RCV001810414 SCV002060062 uncertain significance Usher syndrome type 2A 2021-10-01 criteria provided, single submitter clinical testing NM_206933.2(USH2A):c.9203T>C(V3068A) is a missense variant classified as a variant of uncertain significance in the context of USH2A-related disorders. V3068A has been observed in cases with relevant disease (PMID: 25991456). Functional assessments of this variant are not available in the literature. V3068A has been observed in population frequency databases (gnomAD: NFE 0.07%). In summary, there is insufficient evidence to classify NM_206933.2(USH2A):c.9203T>C(V3068A) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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.