ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter)

dbSNP: rs128627257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000012042 SCV005438846 pathogenic Duchenne muscular dystrophy 2023-07-22 criteria provided, single submitter clinical testing The observed stop gained c.5985T>Gp.Tyr1995Ter variant in DMD gene has been reported previously in X-linked state in individuals affected with Duchenne muscular dystrophy Tran et al., 2007. This variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Pathogenic. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Loss of function variants have been previously reported to be disease causing. Computational evidence MutationTaster - Disease causing automatic predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012042 SCV000032276 pathogenic Duchenne muscular dystrophy 2007-01-01 no assertion criteria provided literature only

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