ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.59del (p.Gly20fs)

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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 RCV003615038 SCV004478842 pathogenic Leber congenital amaurosis 4 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly20Alafs*14) in the AIPL1 gene. 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 is not present in population databases (gnomAD no frequency). 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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