ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1654G>T (p.Val552Phe)

gnomAD frequency: 0.00005  dbSNP: rs748690103
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630544 SCV000751507 uncertain significance Duchenne muscular dystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 552 of the DMD protein (p.Val552Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs748690103, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002499030 SCV002814980 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835883 SCV002090338 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-09-02 no assertion criteria provided clinical testing

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.