Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591973 | SCV000704266 | pathogenic | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368009 | SCV002661264 | pathogenic | Cardiovascular phenotype | 2017-11-10 | criteria provided, single submitter | clinical testing | The p.Q2182* pathogenic mutation (also known as c.6544C>T), located in coding exon 45 of the DMD gene, results from a C to T substitution at nucleotide position 6544. This changes the amino acid from a glutamine to a stop codon within coding exon 45. This alteration has been reported in Duchenne muscular dystrophy (DMD) study cohorts (Prior TW et al. J Mol Diagn, 2005 Aug;7:317-26; Flanigan KM et al. Hum. Mutat., 2009 Dec;30:1657-66). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Institute of Human Genetics, |
RCV003325968 | SCV004032132 | pathogenic | Duchenne muscular dystrophy | no assertion criteria provided | clinical testing |