ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.803T>C (p.Leu268Ser)

dbSNP: rs939491009
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 RCV002041338 SCV002115921 uncertain significance Duchenne muscular dystrophy 2021-07-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 268 of the DMD protein (p.Leu268Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002478084 SCV002776834 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529025 SCV004103618 uncertain significance DMD-related disorder 2023-09-05 criteria provided, single submitter clinical testing The DMD c.803T>C variant is predicted to result in the amino acid substitution p.Leu268Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. A different nucleotide substitution affecting the same amino acid (p.Leu268Phe) has been reported in an individual from a Duchenne/Becker muscular dystrophy cohort (Table 2, Bai et al. 2016. PubMed ID: 27122458). At this time, the clinical significance of the c.803T>C (p.Leu268Ser) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.