ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)

gnomAD frequency: 0.00010  dbSNP: rs139799843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302467 SCV001491678 uncertain significance not provided 2022-06-20 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 4856 of the USH2A protein (p.Asn4856Ser). This variant is present in population databases (rs139799843, gnomAD 0.04%). This missense change has been observed in individual(s) with USH2A-related conditions (PMID: 32675063). ClinVar contains an entry for this variant (Variation ID: 1005570). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001302467 SCV004022861 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing Reported with a second variant (phase unknown) in a patient with retinitis pigmentosa in published literature (Zhu et al., 2020); 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: 32675063)
Genome-Nilou Lab RCV003449857 SCV004183043 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001830187 SCV004183044 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830187 SCV002088215 uncertain significance Usher syndrome type 2A 2020-02-13 no assertion criteria provided clinical testing

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