ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val) (rs1064793015)

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 RCV000483911 SCV000564541 likely pathogenic not provided 2013-02-22 criteria provided, single submitter clinical testing The D2095V missense change in the ABCA4 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The D2095V amino acid substitution is non-conservative with a neutral and polar residue (Asp) being replaced by a neutral and non-polar residue (Val). The residue at which this substitution occurs is highly conserved within the ABC transporter 2 domain of the ABCR protein. Other missense variants in nearby codons (E2096K, D2102E, R2106C, R2107C) have been reported in association with ABCA4-related disorders (Lewis, 1997; Briggs 2001; Zernant, 2011). The D2095V variant was not observed in external variant databases, indicating it is not a common benign variant.

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.