ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1644+4A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002594410 SCV002950932 pathogenic not provided 2022-08-30 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has been observed in individual(s) with Usher syndrome (PMID: 31904091, 32188678). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.

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