ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser)

dbSNP: rs1162070622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913627 SCV002185451 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1903 of the USH2A protein (p.Asn1903Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. 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: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics, Fulgent Genetics RCV002490253 SCV002796399 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452140 SCV004181778 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452139 SCV004181779 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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