ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter)

gnomAD frequency: 0.00001  dbSNP: rs888059763
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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 RCV001385903 SCV001585920 pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1501*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073023). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV001385903 SCV002538705 pathogenic not provided 2022-06-23 criteria provided, single submitter clinical testing 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 in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV004699132 SCV005201048 pathogenic Severe early-childhood-onset retinal dystrophy criteria provided, single submitter clinical testing the detected variant is reported once in gnomAD (1/1582616), and has been reported as pathogenic to ClinVar. It creates a nonsense coding effect and was classified as pathogenic (ACMG: PVS1, PS1, PM2, PM3, PP3)

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