Submissions for variant NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)

dbSNP: rs886043375

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726599	SCV000701734	pathogenic	not provided	2018-01-04	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000595095	SCV000824711	pathogenic	Becker muscular dystrophy	2018-10-04	criteria provided, single submitter	clinical testing
Mendelics	RCV000990560	SCV001141572	pathogenic	Duchenne muscular dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000990560	SCV001206134	pathogenic	Duchenne muscular dystrophy	2021-12-19	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.Leu3485Profs*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 premature translational stop signal has been observed in individuals with Duchenne or Becker muscular dystrophy (PMID: 17041906, 21396098, 26911353, 29973226). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 497301). This variant is also known as c.10454dupC, c.10453_10454insC and c.10453insC.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV000595095	SCV002769665	pathogenic	Becker muscular dystrophy	2022-12-16	criteria provided, single submitter	clinical testing	PVS1, PM2, PP5
Revvity Omics, Revvity	RCV000726599	SCV004234420	pathogenic	not provided	2023-07-11	criteria provided, single submitter	clinical testing