ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152894 SCV003841403 likely pathogenic Leber congenital amaurosis 4 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.91; 3Cnet: 0.32). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with AIPL1 related disorder (PMID: 14611946). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 14611946). The variant has been reported to co-segregate with the disease in at least one similarly affected relative/individual in the same family or similarly affected unrelated family (PMID: 14611946). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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