ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21762816)_(21795986_?)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 RCV003109693 SCV003791686 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-09-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-17 of the RPGRIP1 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 RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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