Submissions for variant NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)

dbSNP: rs2065154326

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001997093	SCV002225359	pathogenic	Duchenne muscular dystrophy	2021-01-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys2989*) 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 (ExAC no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DMD-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc.	RCV002307804	SCV002603583	likely pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy	2022-02-17	criteria provided, single submitter	clinical testing	NM_004006.2(DMD):c.8965A>T(K2989*) 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.