ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1050del (p.Ile351fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003734555 SCV004540373 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 30060493). This sequence change creates a premature translational stop signal (p.Ile351Leufs*23) 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).

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