ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.296dup (p.Asn99fs)

dbSNP: rs62645948
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408568 SCV000281805 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085530 SCV001447557 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000085530 SCV001786473 pathogenic not provided 2020-09-18 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 10958763, 28118664)
Labcorp Genetics (formerly Invitae), Labcorp RCV000085530 SCV004293326 pathogenic not provided 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn99Lysfs*62) 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: 10958763). This variant is also known as 296insA. ClinVar contains an entry for this variant (Variation ID: 99181). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085530 SCV000117667 not provided not provided no assertion provided not provided

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