ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)

gnomAD frequency: 0.00008  dbSNP: rs371201450
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310899 SCV001500877 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Invitae RCV001310899 SCV003453475 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 1773 of the USH2A protein (p.Ile1773Lys). This variant is present in population databases (rs371201450, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of retinal degeneration (PMID: 32037395). ClinVar contains an entry for this variant (Variation ID: 1012761). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001310899 SCV003803514 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing Identified with two pathogenic USH2A variants in a patient with retinal degeneration in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Zampaglione et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32037395)
Genome-Nilou Lab RCV003449887 SCV004181823 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449886 SCV004181824 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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