ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)

dbSNP: rs1177198729
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666713 SCV000791056 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001065685 SCV001230656 pathogenic not provided 2022-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1392*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16963483). ClinVar contains an entry for this variant (Variation ID: 551604). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376203 SCV001573259 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.4174G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Genome-Nilou Lab RCV001376203 SCV004182264 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451652 SCV004182265 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817872 SCV005071235 pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003274 SCV001161357 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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