Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052814 | SCV001217042 | likely benign | Duchenne muscular dystrophy | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416394 | SCV002718090 | uncertain significance | Cardiovascular phenotype | 2022-12-27 | criteria provided, single submitter | clinical testing | The p.D652Y variant (also known as c.1954G>T), located in coding exon 16 of the DMD gene, results from a G to T substitution at nucleotide position 1954. The aspartic acid at codon 652 is replaced by tyrosine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0005% (1/183155) total alleles studied, with no hemizygotes observed. The highest observed frequency was 0.001% (1/81683) of European (non-Finnish) alleles. This amino acid position is well 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, |
RCV001827330 | SCV002092211 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-06-11 | no assertion criteria provided | clinical testing |