ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)

gnomAD frequency: 0.00016  dbSNP: rs113786363
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000285367 SCV000339967 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000285367 SCV001871145 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000285367 SCV003277194 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 3202 of the USH2A protein (p.Pro3202Ala). This variant is present in population databases (rs113786363, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 286511). 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 C25"). 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.
Genome-Nilou Lab RCV003454798 SCV004182673 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001833362 SCV004182674 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833362 SCV002088393 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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