ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) (rs727503723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152599 SCV000201890 likely pathogenic Rare genetic deafness 2017-07-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Blueprint Genetics RCV001075161 SCV001240773 pathogenic Retinal dystrophy 2018-10-09 criteria provided, single submitter clinical testing
Invitae RCV001242872 SCV001415991 likely pathogenic not provided 2019-11-15 criteria provided, single submitter clinical testing This variant, c.6795_6797del, results in the deletion of 2 and insertion of 1 amino acid(s) in the USH2A protein (p.Glu2265_Tyr2266delinsAsp), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with Usher syndrome (PMID: 26667666, 27957503, 22135276). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 166478). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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