ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) (rs61752438)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000999644 SCV001135000 pathogenic Stargardt disease 1 2019-12-02 criteria provided, single submitter clinical testing A homozygous single base pair deletion in exon 34 of the ABCA4 gene that results in a frameshift and premature truncation of the protein 49 amino acids downstream to codon 1613 was detected. The observed variant has been previously reported in patients affected with Stargardt disease (Jaakson et al. 2003). The observed variant has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across mammals. In summary, this variant meets our criteria to be classified as pathogenic.
Blueprint Genetics RCV001074975 SCV001240583 likely pathogenic Retinal dystrophy 2017-11-06 criteria provided, single submitter clinical testing
Retina International RCV000085676 SCV000117816 not provided not provided no assertion provided not provided

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