ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1442del (p.Phe481fs)

dbSNP: rs2101101226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543443 SCV001762017 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001543443 SCV004431231 pathogenic not provided 2023-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe481Serfs*87) 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: 1184877). 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).

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