ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)

dbSNP: rs61752391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085386 SCV000564518 pathogenic not provided 2021-04-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28559085, 29925512, 25312043, 27820952, 23499370, 25472526, 10958763)
Invitae RCV000085386 SCV001222219 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp439*) 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 present in population databases (rs61752391, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Stargardt disease or retinitis pigmentosa (PMID: 25472526, 28559085). ClinVar contains an entry for this variant (Variation ID: 99043). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074256 SCV001239829 pathogenic Retinal dystrophy 2019-05-02 criteria provided, single submitter clinical testing
Retina International RCV000085386 SCV000117523 not provided not provided no assertion provided not provided

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