ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)

gnomAD frequency: 0.00001  dbSNP: rs755835144
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044849 SCV001208669 likely benign Duchenne muscular dystrophy 2024-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327287 SCV002628708 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.R1459Q variant (also known as c.4376G>A), located in coding exon 32 of the DMD gene, results from a G to A substitution at nucleotide position 4376. The arginine at codon 1459 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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.
Revvity Omics, Revvity RCV003145277 SCV003830067 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832425 SCV002085329 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-18 no assertion criteria provided clinical testing
GenomeConnect - Brain Gene Registry RCV003233935 SCV003931217 not provided Becker muscular dystrophy; Duchenne muscular dystrophy no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 09-09-2022 by PerkinElmer Genomics. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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