ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)

dbSNP: rs1301139848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760647 SCV000890539 pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing The E2667X variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E2667X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E2667X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000760647 SCV001407006 pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2667*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 620283). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453570 SCV004183185 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569425 SCV005055755 likely pathogenic Retinitis pigmentosa 39 2023-12-23 criteria provided, single submitter clinical testing

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