ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)

dbSNP: rs1557038061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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, University of Wuerzburg RCV003325968 SCV004032132 pathogenic Duchenne muscular dystrophy no assertion criteria provided clinical testing

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