ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

gnomAD frequency: 0.00001  dbSNP: rs1461319754
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513450 SCV000608525 likely pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000513450 SCV000705703 pathogenic not provided 2017-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000672338 SCV000797435 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-01-25 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073947 SCV001239512 likely pathogenic Retinal dystrophy 2018-07-27 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375184 SCV001571790 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate
Labcorp Genetics (formerly Invitae), Labcorp RCV000513450 SCV002232768 pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 444203). This premature translational stop signal has been observed in individual(s) with clinical features of USH2A-related conditions (PMID: 32037395). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1706*) 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).
Genome-Nilou Lab RCV003449461 SCV004181843 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449460 SCV004181844 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449461 SCV004200697 pathogenic Retinitis pigmentosa 39 2023-05-30 criteria provided, single submitter clinical testing

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