ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079018 SCV003460717 likely pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt USH2A protein function. This variant is present in population databases (rs756571385, gnomAD 0.02%). This missense change has been observed in individual(s) with retinitis pigmentosa and/or Usher syndrome (PMID: 29625443, 33090715). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2028 of the USH2A protein (p.Tyr2028Cys).
Pangenia Genomics, Pangenia Inc. RCV003226567 SCV003922059 uncertain significance Retinitis pigmentosa 39 2022-03-14 criteria provided, single submitter research The USH2A, c.6083A>G (p.Tyr2028Cys) variant is at extremely low frequency in population database; allele frequency in East Asia population is 0.0002 by gnomAD v2.1.1. This variant has been reported [PMID:30029497] to be detected in a retinitis pigmentosa patient, in trans with a known pathogenic variant [USH2A, c.2802T>G (p.Cys934Trp)]. Multiple lines of computational evidence support a deleterious effect on the gene/gene product (REVEL = 0.891). This variant is detected in trans with a variant of uncertain significance [USH2A, c.1625G>T (p.Ser542Ile)].
Genome-Nilou Lab RCV003226567 SCV004181718 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455690 SCV004181719 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003226567 SCV004208168 likely pathogenic Retinitis pigmentosa 39 2024-03-17 criteria provided, single submitter clinical testing

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