Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206434 | SCV001377742 | likely benign | Duchenne muscular dystrophy | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002375142 | SCV002685450 | uncertain significance | Cardiovascular phenotype | 2021-02-16 | criteria provided, single submitter | clinical testing | The p.L3168F variant (also known as c.9504G>C), located in coding exon 65 of the DMD gene, results from a G to C substitution at nucleotide position 9504. The leucine at codon 3168 is replaced by phenylalanine, an amino acid with highly similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (4/205264) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.02% (4/18979) of African/African-American alleles. This amino acid position is highly 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. |
Fulgent Genetics, |
RCV002484115 | SCV002777272 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828655 | SCV002077663 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2019-07-10 | no assertion criteria provided | clinical testing |