ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)

dbSNP: rs376674482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001007965 SCV001167693 pathogenic not provided 2019-03-20 criteria provided, single submitter clinical testing The C691X nonsense variant has been observed previously with other heterozygous USH2A variants in patients with USH2A-related disorders (Sandberg et al., 2008; Neuhaus et al., 2017). The variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001007965 SCV003524088 pathogenic not provided 2022-05-29 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: 816945). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 15325563). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys691*) 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 RCV003455064 SCV004182464 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021315 SCV005641090 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-06-17 criteria provided, single submitter clinical testing

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