ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)

gnomAD frequency: 0.00003  dbSNP: rs1064793745
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485380 SCV000566920 pathogenic not provided 2015-07-06 criteria provided, single submitter clinical testing The W1169X nonsense variant in the USH2A gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this variant has not beenreported previously to our knowledge, we interpret it as pathogenic.
Counsyl RCV000674309 SCV000799624 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449188 SCV004182335 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449187 SCV004182336 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000485380 SCV004292961 pathogenic not provided 2023-09-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 419244). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 26969326). This sequence change creates a premature translational stop signal (p.Trp1169*) 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).

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