ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)

dbSNP: rs2100987881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware RCV002259425 SCV002526665 likely pathogenic Severe early-childhood-onset retinal dystrophy 2022-06-21 criteria provided, single submitter clinical testing This sequence change (c.6698A>T ) creates a missense variant and replaces glutamic acid with valine in the amino acid sequence of the ABCA4 protein (p.Glu2233Val). This substitution occurs at a residue that is conserved across vertebrate species. There is a substantial physicochemical difference between the amino acids glutamic acid and valine. Based on 3D protein structure modeling and other in silico analyses, this variant is expected to disrupt ABCA4 protein structure and function. This variant is not present in population databases: ExAC or 1000G. It has been observed in blood-related individuals with clinical features of early-onset severe retinal dystrophy. The data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. In summary, the currently available evidence suggests that the variant is likely pathogenic.

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