ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21766946)_(21770647_?)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 RCV004578105 SCV005065573 likely pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2020-06-23 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. 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 with RPGRIP1-related conditions. This variant results in the deletion of exon 3 and part of exon 4 (c.219-2179_491del) of the RPGRIP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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