ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile) (rs752160946)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431853 SCV000511909 likely pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing The M1882I variant in the ABCA4 gene has been reported previously in multiple unrelated individuals with an ABCA4-related disorder, most of whom also harbored another ABCA4 variant (Schindler et al., 2010; Zernant et al., 2011; Yi et al., 2012; Xin et al., 2015; Duncker et al., 2015); however, segregation analysis was not performed in all cases to confirm the phase of the reported variants. The M1882I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1882I variant is a conservative amino acid substitution. Although this substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M1882I as a strong candidate for a pathogenic variant; however, the possibility it is a rare benign variant cannot be excluded.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.