ClinVar Miner

Submissions for variant NC_000001.11:g.(?_215670962)_(215675626_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032803 SCV001196110 pathogenic not provided 2020-01-03 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 63-64 of the USH2A gene. It preserves the integrity of the reading frame. Deletions of exons 63-64 have been observed in individuals affected with clinical features of retinitis pigmentosa and/or hearing loss (PMID: 28041643, 26969326, Invitae). This variant disrupts the p.Thr4439 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25521520, 22135276, 27460420). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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