ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)

gnomAD frequency: 0.00001  dbSNP: rs61750573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074056 SCV001239624 likely pathogenic Retinal dystrophy 2018-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000085724 SCV002757008 pathogenic not provided 2022-11-03 criteria provided, single submitter clinical testing 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 10634594, 29925512)
Invitae RCV000085724 SCV003523413 pathogenic not provided 2022-11-01 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: 99370). This premature translational stop signal has been observed in individual(s) with Stargardt Disease (PMID: 10634594, 28355279, 29925512). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1779*) 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 RCV000085724 SCV000117864 not provided not provided no assertion provided not provided

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