ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)

dbSNP: rs1468041544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380823 SCV001579004 pathogenic Leber congenital amaurosis 4 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 812218). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 20702822). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Trp72*) 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).
GeneDx RCV003226992 SCV003923623 pathogenic not provided 2022-11-02 criteria provided, single submitter clinical testing Identified in a family with Leber congenital amaurosis in the published literature, however detailed segregation data was not provided (Sharon et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31456290)
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002864 SCV001160892 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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