Submissions for variant NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)

gnomAD frequency: 0.00013  dbSNP: rs373832446

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080790	SCV000112692	uncertain significance	not provided	2016-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079634	SCV000560806	benign	Duchenne muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621258	SCV000737165	likely benign	Cardiovascular phenotype	2022-01-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000080790	SCV000977094	benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000603	SCV001157592	uncertain significance	not specified	2018-09-26	criteria provided, single submitter	clinical testing	The DMD p.Tyr2752Cys variant (rs373832446), to our knowledge, has not been reported in the medical literature or gene specific databases; however, this variant is also listed in the ClinVar database with conflicting interpretations (Variation ID: 94797). This variant is found in the general population with an allele frequency in non-Finnish Europeans of 0.03% (28/87,438 alleles; including 5 hemizygotes) in the Genome Aggregation Database. The tyrosine at codon 2752 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Thus, based on the available information, the clinical significance of this variant is uncertain.
Revvity Omics, Revvity	RCV000080790	SCV003829492	uncertain significance	not provided	2021-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737191	SCV005353988	likely benign	DMD-related disorder	2024-06-12	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).