ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)

gnomAD frequency: 0.00121  dbSNP: rs142481947
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724948 SCV000332667 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000387630 SCV000711233 likely benign not specified 2018-01-09 criteria provided, single submitter clinical testing p.Val3823Ile in exon 59 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (45/10404) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142481947). 0.4% (95/23930) of African chromosomes by the Genome Aggr egation Database (gnomAD, http://gnomad.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV000724948 SCV001038516 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073259 SCV001238795 uncertain significance Retinal dystrophy 2018-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000724948 SCV001805468 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002518828 SCV003614333 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.11467G>A (p.V3823I) alteration is located in exon 59 (coding exon 58) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 11467, causing the valine (V) at amino acid position 3823 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004535263 SCV004721045 likely benign USH2A-related disorder 2023-09-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274939 SCV001459522 uncertain significance Usher syndrome type 2A 2019-11-06 no assertion criteria provided clinical testing

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