Submissions for variant NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)

dbSNP: rs398123865

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080461	SCV000112363	pathogenic	not provided	2012-12-05	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000174745	SCV000255704	pathogenic	Duchenne muscular dystrophy	2013-09-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000174745	SCV001414948	pathogenic	Duchenne muscular dystrophy	2025-01-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg539*) 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 individuals with DMD-related muscular dystrophy (PMID: 15351422, 21515508, 21969337, 27593222). ClinVar contains an entry for this variant (Variation ID: 94475). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV000080461	SCV002021697	pathogenic	not provided	2023-05-19	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV000174745	SCV002769577	pathogenic	Duchenne muscular dystrophy	2022-12-16	criteria provided, single submitter	clinical testing	PVS1, PM2, PP5
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796006	SCV005418187	pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B		criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1+PS4_Moderate+PP4