ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)

gnomAD frequency: 0.00001  dbSNP: rs147304271
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073233 SCV001238769 uncertain significance Retinal dystrophy 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001245929 SCV001419253 pathogenic not provided 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 4187 of the USH2A protein (p.Arg4187His). This variant is present in population databases (rs147304271, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (PMID: 24938718, 31054281, 32050993, 32188678, 33090715; 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: 865757). 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 RCV002480448 SCV002777044 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-01-27 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001073233 SCV004707266 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001828533 SCV002088301 uncertain significance Usher syndrome type 2A 2019-11-06 no assertion criteria provided clinical testing

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