ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter)

dbSNP: rs1661669685
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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 RCV001074777 SCV001240373 pathogenic Retinal dystrophy 2019-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204394 SCV001375599 pathogenic not provided 2022-11-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 866626). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with Stargardt disease (PMID: 26593885, 30820146). This sequence change creates a premature translational stop signal (p.Gln305*) 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).
GeneDx RCV001204394 SCV001792490 pathogenic not provided 2024-03-12 criteria provided, single submitter clinical testing Observed with a second ABCA4 variant in a patient with Stargardt disease in published literature (PMID: 26593885); 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30820146, 26593885, 35120629)

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