Submissions for variant NM_004006.3(DMD):c.4072-245C>T

gnomAD frequency: 0.00046  dbSNP: rs140237546

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215796	SCV000271676	uncertain significance	not specified	2015-06-05	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.48+4C>T varia nt in DMD has not been previously reported in individuals with cardiomyopathy, b ut has been identified in 0.2% (10/4843) of African chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs140237546). T his variant is located in the 3' splice region. Although computational tools do not suggest an impact to splicing, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.48+ 4C>T variant is uncertain, its frequency suggests that it is more likely to be b enign.
GeneDx	RCV001705749	SCV001862184	benign	not provided	2019-11-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542775	SCV004758274	likely benign	DMD-related disorder	2023-11-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).