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 2024-01-12 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 present in population databases (rs201738997, gnomAD 0.01%). 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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