ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4956T>G (p.Tyr1652Ter)

dbSNP: rs61750561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085688 SCV003523332 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1652*) 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). 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: 99335). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085688 SCV000117828 not provided not provided no assertion provided not provided

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