ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)

dbSNP: rs1571256775
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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 RCV003769392 SCV004662947 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1687Phefs*15) 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: 812201). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002821 SCV001160836 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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