ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) (rs61750648)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408484 SCV000281955 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085806 SCV000490384 pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing The R2106C variant has been reported in association with ABCA4-related disorders (Allikmets et al.,1997; Yatsenko et al., 2001; Duncker et al., 2015; Downes et al., 2012). The R2106C variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The R2106C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is pathogenic.
Blueprint Genetics RCV001075529 SCV001241155 pathogenic Retinal dystrophy 2018-12-04 criteria provided, single submitter clinical testing
Retina International RCV000085806 SCV000117949 not provided not provided no assertion provided not provided

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