ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9959-4159A>G

dbSNP: rs1662067653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224891 SCV001397117 pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26629787). ClinVar contains an entry for this variant (Variation ID: 952728). This variant has been observed in individual(s) with retinitis pigmentosa and/or Usher syndrome (PMID: 26629787; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 50 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein.
Baylor Genetics RCV003469394 SCV004208291 likely pathogenic Retinitis pigmentosa 39 2023-09-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001224891 SCV001923890 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001224891 SCV001974258 pathogenic not provided no assertion criteria provided clinical testing

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