ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)

gnomAD frequency: 0.00001  dbSNP: rs199825458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670318 SCV000795156 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV002281123 SCV002569706 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing Identified in a patient with retinitis pigmentosa in published literature, however, a second USH2A variant was not identified (Zhao et al., 2014); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25078356)
Genome-Nilou Lab RCV003453300 SCV004181553 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453299 SCV004181554 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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