ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)

dbSNP: rs1657939866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231420 SCV001403940 pathogenic not provided 2022-05-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 958281). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys4424*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
Baylor Genetics RCV003462787 SCV004206316 likely pathogenic Retinitis pigmentosa 39 2023-02-24 criteria provided, single submitter clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV002307704 SCV002600272 pathogenic Usher syndrome type 2 2022-11-14 no assertion criteria provided clinical testing Novel pathogenic variant. PVS1, PM2, PP5. https://franklin.genoox.com/clinical-db/variant/snp/chr1-215847981-G-T

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