ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)

gnomAD frequency: 0.00006  dbSNP: rs146014881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241874 SCV001414926 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3463 of the USH2A protein (p.Asp3463Gly). This variant is present in population databases (rs146014881, gnomAD 0.2%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 967058). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Dept Of Ophthalmology, Nagoya University RCV003887955 SCV004707889 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001836213 SCV002088360 uncertain significance Usher syndrome type 2A 2020-01-23 no assertion criteria provided clinical testing

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