ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)

gnomAD frequency: 0.00001  dbSNP: rs1423233510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324975 SCV001515947 pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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. ClinVar contains an entry for this variant (Variation ID: 1024751). This missense change has been observed in individual(s) with clinical features of Usher syndrome (PMID: 26927203, 32675063; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 4331 of the USH2A protein (p.Tyr4331Cys).
Fulgent Genetics, Fulgent Genetics RCV005014424 SCV005645498 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830366 SCV002088282 uncertain significance Usher syndrome type 2A 2020-08-12 no assertion criteria provided clinical testing

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