Total submissions: 3
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, |
RCV001828821 | SCV002087666 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-10-28 | no assertion criteria provided | clinical testing |