ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)

gnomAD frequency: 0.00001  dbSNP: rs757315203
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591879 SCV001816015 likely pathogenic Retinitis pigmentosa 39 2021-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001591878 SCV001821931 uncertain significance Usher syndrome type 2A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001591879 SCV001821942 uncertain significance Retinitis pigmentosa 39 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV003314694 SCV004014247 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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