ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.146G>A (p.Arg49His)

gnomAD frequency: 0.00005  dbSNP: rs765584669
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273629 SCV000334139 uncertain significance not provided 2015-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000695408 SCV000823905 likely benign Duchenne muscular dystrophy 2024-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392799 SCV002701276 uncertain significance Cardiovascular phenotype 2021-05-28 criteria provided, single submitter clinical testing The p.R49H variant (also known as c.146G>A), located in coding exon 3 of the DMD gene, results from a G to A substitution at nucleotide position 146. The arginine at codon 49 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.003% (7/204516) total alleles studied, with 2 hemizygotes observed. The highest observed frequency was 0.016% (3/18900) of African/African-American alleles. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002494825 SCV002780774 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-10-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000273629 SCV003829477 uncertain significance not provided 2020-08-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828187 SCV002092932 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-21 no assertion criteria provided clinical testing

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