ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)

gnomAD frequency: 0.00002  dbSNP: rs758303489
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075062 SCV001240673 pathogenic Retinal dystrophy 2018-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382060 SCV001580667 pathogenic not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 334 of the USH2A protein (p.Arg334Gln). This variant is present in population databases (rs758303489, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of Usher syndrome or retinitis pigmentosa (PMID: 17405132, 27344577, 29625443; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552304). 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. This variant disrupts the p.Arg334 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10909849, 15025721, 17405132, 18452394, 19683999, 28894305). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV001835907 SCV002519949 pathogenic Usher syndrome type 2A 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459585 SCV004208200 likely pathogenic Retinitis pigmentosa 39 2023-10-09 criteria provided, single submitter clinical testing
Counsyl RCV000667534 SCV000792003 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-06-02 flagged submission clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003286 SCV001161369 pathogenic Usher syndrome type 2 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV001835907 SCV002094003 pathogenic Usher syndrome type 2A 2021-08-24 no assertion criteria provided clinical testing

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