ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6485+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242662 SCV001415765 pathogenic not provided 2019-10-18 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome and retinitis pigmentosa (PMID: 19737284, 29641573, 30280194 ). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20596040). For these reasons, this variant has been classified as Pathogenic.

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