ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) (rs148460146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132592 SCV000172537 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
GeneDx RCV000132592 SCV000490382 likely pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing The R2040Q variant has been published previously in association with ABCA4-related disorders (Westeneng-van Haaften et al., 2012; Zernant et al., 2014; Zaneveld et al., 2015). The 1000 Genomes Project Consortium reports it was observed in 5/1008 (0.5%) alleles from individuals of East Asian background, indicating it may be a rare variant in this population. R2040Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position within a nucleotide-binding domain that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic.

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