Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000778509 | SCV000914782 | uncertain significance | AIPL1-related disorder | 2019-01-10 | criteria provided, single submitter | clinical testing | The AIPL1 c.94C>T (p.Arg32Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000120 in the African population from the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg32Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for AIPL1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Labcorp Genetics |
RCV001390292 | SCV001591973 | pathogenic | Leber congenital amaurosis 4 | 2024-02-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg32*) 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 present in population databases (rs139305531, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 25596619). ClinVar contains an entry for this variant (Variation ID: 631782). For these reasons, this variant has been classified as Pathogenic. |