ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771716 SCV005382421 uncertain significance Severe early-childhood-onset retinal dystrophy 2023-05-20 criteria provided, single submitter clinical testing The missense c.6083C>G (p.Thr2028Arg) variant in the ABCA4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Threonine at position 2028 is changed to a Arginine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Probably damaging, SIFT – Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid Threonine in ABCA4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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