ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1A>G (p.Met1Val) (rs201738997)

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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 RCV000408483 SCV000281789 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085454 SCV000329043 pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing The c.1 A>G pathogenic variant in the ABCA4 gene has been reported previously in association with ABCA4-related disorders (Briggs et al., 2001; Maia-Lopes et al., 2009; Eisenberger et al., 2013). The pathogenic variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1? using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.
Institute of Medical Molecular Genetics, University of Zurich RCV000408483 SCV001548067 likely pathogenic Stargardt disease 1 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000085454 SCV001587238 pathogenic not provided 2020-03-26 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). This variant has been observed in individual(s) with Stargardt disease (PMID: 29925512, 28118664). ClinVar contains an entry for this variant (Variation ID: 99110, 236068). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085454 SCV000117591 not provided not provided no assertion provided not provided

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