ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2898del (p.Thr967fs)

dbSNP: rs397518008
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000824792 SCV000065515 pathogenic Rare genetic deafness 2012-11-05 criteria provided, single submitter clinical testing The Thr967fs variant in USH2A has been reported in at least three individuals wi th Usher syndrome, two of whom were homozygous, and was found to segregate with disease in one affected family member (Eudy 1998, Weston 2000, Seyedahmadi 2004, Jaijo 2010). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 967 and lead to a premature termination cod on 44 amino acids downstream. This alteration is then predicted to lead to a tru ncated or absent protein. In summary, this variant meets our criteria to be clas sified as pathogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000671576 SCV000796564 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851582 SCV002228487 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr967Leufs*44) 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 type IIa (PMID: 9624053). This variant is also known as 2913delG. ClinVar contains an entry for this variant (Variation ID: 2352). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003450613 SCV004182389 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000002446 SCV004182390 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450613 SCV004206284 pathogenic Retinitis pigmentosa 39 2023-03-20 criteria provided, single submitter clinical testing
OMIM RCV000002446 SCV000022604 pathogenic Usher syndrome type 2A 2000-04-01 no assertion criteria provided literature only
Natera, Inc. RCV000002446 SCV002093942 pathogenic Usher syndrome type 2A 2020-11-20 no assertion criteria provided clinical testing

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