ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) (rs727504871)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156233 SCV000205949 uncertain significance not specified 2013-12-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp1919Glu in D SP has not been previously reported in individuals with cardiomyopathy or in lar ge population studies. Aspartic acid (Asp) at position 1919 is not conserved in evolution and several species (including one mammal) carry a glutamic acid (Glu) at this position, supporting that this change may be tolerated. Computational p redictions (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impa ct to the protein. Although this data supports that the Asp1919Glu variant may be benign, additional studies are needed to fully assess its clinical significan ce.

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.