Submissions for variant NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter)

dbSNP: rs2147613866

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001982003	SCV002211701	pathogenic	Duchenne muscular dystrophy	2021-10-31	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1449*) 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).
Myriad Genetics, Inc.	RCV002307797	SCV002603403	likely pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy	2022-01-08	criteria provided, single submitter	clinical testing	NM_004006.2(DMD):c.4345A>T(K1449*) is expected to be pathogenic in the context of dystrophinopathy (including Duchenne/Becker muscular dystrophy). This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DMD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.