ClinVar Miner

Submissions for variant NC_000017.10:g.(?_6338309)_(6338424_?)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 RCV004581293 SCV005065387 pathogenic Leber congenital amaurosis 4 2024-01-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the AIPL1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIPL1 are known to be pathogenic (PMID: 10615133, 15249368, 15347646). This variant has not been reported in the literature in individuals affected with AIPL1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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