ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5156G>A (p.Arg1719His)

gnomAD frequency: 0.00001  dbSNP: rs1273883368
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236637 SCV001409369 uncertain significance Duchenne muscular dystrophy 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1719 of the DMD protein (p.Arg1719His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 962729). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002484294 SCV002780491 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380920 SCV004097145 uncertain significance Cardiovascular phenotype 2023-08-31 criteria provided, single submitter clinical testing The p.R1719H variant (also known as c.5156G>A), located in coding exon 37 of the DMD gene, results from a G to A substitution at nucleotide position 5156. The arginine at codon 1719 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.0011% (2/174237) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0075% (2/26582) of Latino alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697088 SCV005197726 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828881 SCV002093534 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-15 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.