ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter)

dbSNP: rs61749425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074306 SCV001239879 pathogenic Retinal dystrophy 2019-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085461 SCV002238989 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp700*) 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 (rs61749425, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 11702214). ClinVar contains an entry for this variant (Variation ID: 99117). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085461 SCV000117598 not provided not provided no assertion provided not provided

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