Submissions for variant NM_004006.3(DMD):c.960+2T>G

dbSNP: rs776457078

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700068	SCV005203959	likely pathogenic	Qualitative or quantitative defects of dystrophin	2024-06-24	criteria provided, single submitter	clinical testing	Variant summary: DMD c.960+2T>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Three predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 181773 control chromosomes. c.960+2T>G has been reported in the literature in at least one individual affected with Duchenne Muscular Dystrophy (Stehlikova_2017). These data suggest the variant is likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 27447704). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005051470	SCV005682877	likely pathogenic	Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B	2024-06-07	criteria provided, single submitter	clinical testing