ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)

gnomAD frequency: 0.00001  dbSNP: rs770329105
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819794 SCV000960475 pathogenic not provided 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1777 of the USH2A protein (p.Arg1777Trp). This variant is present in population databases (rs770329105, gnomAD 0.003%). This missense change has been observed in individual(s) with Usher syndrome or isolated retinitis pigmentosa (PMID: 21593743, 22135276, 26629787, 26969326). 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: 662197). 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 not expected to disrupt USH2A protein function with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507436 SCV002807593 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2022-05-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453722 SCV004181821 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276249 SCV004181822 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453722 SCV004208188 pathogenic Retinitis pigmentosa 39 2024-03-20 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889991 SCV004707994 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001276249 SCV001462257 pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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