ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)

dbSNP: rs1057518955
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414893 SCV000493013 pathogenic Visual impairment; Retinopathy 2014-02-17 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074613 SCV001240204 likely pathogenic Retinal dystrophy 2019-01-17 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196665 SCV001367291 pathogenic Age related macular degeneration 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268822 SCV001448015 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268822 SCV002245746 pathogenic not provided 2021-07-26 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: 374183). This variant is also known as c.5174_5175insG. This premature translational stop signal has been observed in individual(s) with ABCA4-related conditions (PMID: 24550365, 31212395). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1726Aspfs*61) 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).

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