ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3152G>A (p.Arg1051Gln)

gnomAD frequency: 0.00001  dbSNP: rs761715369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224121 SCV001396301 likely benign Duchenne muscular dystrophy 2024-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322086 SCV002610130 uncertain significance Cardiovascular phenotype 2022-08-10 criteria provided, single submitter clinical testing The p.R1051Q variant (also known as c.3152G>A), located in coding exon 23 of the DMD gene, results from a G to A substitution at nucleotide position 3152. The arginine at codon 1051 is replaced by glutamine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.0024% (6/169867) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0055% (4/73318) of European (non-Finnish) alleles. This amino acid position is not 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.
Natera, Inc. RCV001828785 SCV002088984 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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