ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)

dbSNP: rs1603445344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990615 SCV001141631 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990615 SCV003461981 pathogenic Duchenne muscular dystrophy 2022-10-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2569*) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 29604111). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 803835).
Neuberg Centre For Genomic Medicine, NCGM RCV000990615 SCV004048509 pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The stop gained variant c.7705C>T (p.Gln2569Ter) in DMD gene has been reported to the ClinVar database as Pathogenic. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. The nucleotide change in DMD is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic.

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