ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.434G>A (p.Arg145Gln)

gnomAD frequency: 0.00005  dbSNP: rs398123952
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363943 SCV000338251 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246596 SCV001419960 likely benign Duchenne muscular dystrophy 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000363943 SCV001814690 likely benign not provided 2019-04-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30564623, 25163546)
Ambry Genetics RCV002328777 SCV002632202 uncertain significance Cardiovascular phenotype 2023-09-20 criteria provided, single submitter clinical testing The p.R145Q variant (also known as c.434G>A), located in coding exon 6 of the DMD gene, results from a G to A substitution at nucleotide position 434. The arginine at codon 145 is replaced by glutamine, an amino acid with highly similar properties. This variant (referred to as p.R141Q, c.422G>A) has been detected in a dilated cardiomyopathy cohort; however, details were limited (Haas J et al. Eur. Heart J., 2015 May;36:1123-35a). Based on data from gnomAD, the A allele has an overall frequency of approximately 0.005% (10/205291) total alleles studied, including 3 hemizygotes. The highest observed frequency was 0.01% (3/28037) of Latino alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000363943 SCV001744044 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000363943 SCV001798562 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000363943 SCV001966591 uncertain significance not provided no assertion criteria provided clinical testing

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