Submissions for variant NM_004006.3(DMD):c.986C>A (p.Ser329Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV002309435	SCV002603811	likely pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy	2022-03-31	criteria provided, single submitter	clinical testing	NM_004006.2(DMD):c.986C>A(S329*) 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005096133	SCV005839916	pathogenic	Duchenne muscular dystrophy	2024-10-30	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser329*) 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 variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1725751). For these reasons, this variant has been classified as Pathogenic.