ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8426G>A (p.Arg2809His)

gnomAD frequency: 0.00005  dbSNP: rs778331600
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733196 SCV000861228 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001227516 SCV001399877 likely benign Duchenne muscular dystrophy 2024-10-18 criteria provided, single submitter clinical testing
New York Genome Center RCV001592937 SCV001815737 uncertain significance Dilated cardiomyopathy 3B 2020-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303219 SCV004001546 uncertain significance Cardiovascular phenotype 2023-03-31 criteria provided, single submitter clinical testing The p.R2809H variant (also known as c.8426G>A), located in coding exon 57 of the DMD gene, results from a G to A substitution at nucleotide position 8426. The arginine at codon 2809 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of <0.01% (4/200772) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was <0.01% (1/18785) of African alleles. This amino acid position is highly 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.
Natera, Inc. RCV001830633 SCV002087674 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-18 no assertion criteria provided clinical testing

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