ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs)

dbSNP: rs1661162346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075222 SCV001240836 likely pathogenic Retinal dystrophy 2018-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002557922 SCV003323142 pathogenic not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile619Alafs*27) 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: 866871). For these reasons, this variant has been classified as Pathogenic.

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