ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs201738997
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408483 SCV000281789 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085454 SCV000329043 pathogenic not provided 2021-10-20 criteria provided, single submitter clinical testing Identified in other unrelated patients with ABCA4-related disorders in published literature (Briggs et al., 2001; Maia-Lopes et al., 2009); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 19365591, 28118664, 11527935, 24265693, 29925512, 31456290)
Institute of Medical Molecular Genetics, University of Zurich RCV000408483 SCV001548067 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000085454 SCV001587238 pathogenic not provided 2021-09-05 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ABCA4 mRNA. The next in-frame methionine is located at codon 61. This variant is not present in population databases (ExAC no frequency). Disruption of the initiator codon has been observed in individuals with Stargardt disease (PMID: 28118664, 29925512). ClinVar contains an entry for this variant (Variation ID: 99110). For these reasons, this variant has been classified as Pathogenic.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814056 SCV001755292 likely pathogenic Abnormality of the eye 2021-07-10 criteria provided, single submitter clinical testing
Retina International RCV000085454 SCV000117591 not provided not provided no assertion provided not provided

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