ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21798388)_(21798566_?)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 RCV002036231 SCV002314013 likely pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-19 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. A similar copy number variant has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant results in a copy number gain of the genomic region encompassing exon(s) 19 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).

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