ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21762816)_(21762988_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003109695 SCV003791688 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-08 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 2 of the RPGRIP1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). A similar copy number variant has been observed in individual(s) with inherited retinal dystrophy (PMID: 30072743). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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