ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5697dup (p.Leu1900fs)

dbSNP: rs794727661
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733065 SCV000861084 pathogenic not provided 2018-05-08 criteria provided, single submitter clinical testing
Mendelics RCV000990641 SCV001141658 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990641 SCV002144655 pathogenic Duchenne muscular dystrophy 2024-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1900Ilefs*6) 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 variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 19959795). ClinVar contains an entry for this variant (Variation ID: 597052). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000990641 SCV002769613 pathogenic Duchenne muscular dystrophy 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Revvity Omics, Revvity RCV000733065 SCV003827592 pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000733065 SCV005888939 pathogenic not provided 2024-09-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34802424, 34679607, 36082559, 19959795, 16770791)
Natera, Inc. RCV001830629 SCV002093470 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-03-24 no assertion criteria provided clinical testing

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