ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter)

dbSNP: rs61752423
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085591 SCV000321349 pathogenic not provided 2016-08-18 criteria provided, single submitter clinical testing The E1252X nonsense variant in the ABCA4 gene has been reported previously in association with Stargardt disease (Rozet et al., 1998; Burke et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. E1252X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.
Blueprint Genetics RCV001074194 SCV001239764 pathogenic Retinal dystrophy 2019-03-01 criteria provided, single submitter clinical testing
Invitae RCV000085591 SCV001401323 pathogenic not provided 2022-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99238). This premature translational stop signal has been observed in individual(s) with Stargardt disease (Invitae). This variant is present in population databases (rs61752423, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu1252*) 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).
Retina International RCV000085591 SCV000117729 not provided not provided no assertion provided not provided

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