ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter)

dbSNP: rs61750125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085582 SCV005833978 pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1177*) 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: 14517951, 28365912). ClinVar contains an entry for this variant (Variation ID: 99230). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085582 SCV000117720 not provided not provided no assertion provided not provided

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