Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051755 | SCV001215931 | likely benign | Duchenne muscular dystrophy | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374908 | SCV002685008 | uncertain significance | Cardiovascular phenotype | 2021-06-24 | criteria provided, single submitter | clinical testing | The p.R314G variant (also known as c.940C>G), located in coding exon 9 of the DMD gene, results from a C to G substitution at nucleotide position 940. The arginine at codon 314 is replaced by glycine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.001% (1/181716) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.004% (1/27261) of Latino/ Admixed American 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, |
RCV001832475 | SCV002090441 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-04-22 | no assertion criteria provided | clinical testing |