ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)

gnomAD frequency: 0.00001  dbSNP: rs762358589
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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 RCV001049404 SCV001213452 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2920 of the USH2A protein (p.Thr2920Ala). This variant is present in population databases (rs762358589, gnomAD 0.003%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 36819107; Invitae). ClinVar contains an entry for this variant (Variation ID: 846165). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV001073507 SCV001239050 likely pathogenic Retinal dystrophy 2019-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832460 SCV002090806 uncertain significance Usher syndrome type 2A 2020-07-24 no assertion criteria provided clinical testing

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