ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)

dbSNP: rs1661575232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052785 SCV001217011 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp499*) 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: 28512305). ClinVar contains an entry for this variant (Variation ID: 848932). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075839 SCV001241478 pathogenic Retinal dystrophy 2019-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001052785 SCV002064151 pathogenic not provided 2022-01-24 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 at significant frequency in large population cohorts (gnomAD); Identified in an individual with Stargardt disease in published literature (Huang et al., 2017); This variant is associated with the following publications: (PMID: 33301772, 28512305)
Fulgent Genetics, Fulgent Genetics RCV005036344 SCV005663571 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-05-30 criteria provided, single submitter clinical testing

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