ClinVar Miner

Submissions for variant NC_000001.10:g.(?_216172219)_(216173914_?)del

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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 RCV003114070 SCV003795375 pathogenic not provided 2022-01-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 33-34 of the USH2A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). A similar copy number variant has been observed in individual(s) with inherited retinal disease (PMID: 26872967). For these reasons, this variant has been classified as Pathogenic.

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