ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3856_3859del (p.Phe1286fs)

dbSNP: rs1660348024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248038 SCV001421499 pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1286Argfs*102) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 972090). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001248038 SCV001446992 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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