ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8543A>G (p.His2848Arg)

gnomAD frequency: 0.00002  dbSNP: rs146890210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228187 SCV001400573 likely benign Duchenne muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447143 SCV002678902 uncertain significance Cardiovascular phenotype 2020-07-07 criteria provided, single submitter clinical testing The p.H2848R variant (also known as c.8543A>G), located in coding exon 57 of the DMD gene, results from an A to G substitution at nucleotide position 8543. The histidine at codon 2848 is replaced by arginine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.002% (3/183384) total alleles studied, including one hemizygote. The highest observed frequency was 0.02% (3/13158) of African alleles (Lek M et al. Nature. 2016 08;536:285-91). This amino acid position is 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. RCV001828821 SCV002087666 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-28 no assertion criteria provided clinical testing

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