ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)

gnomAD frequency: 0.00002  dbSNP: rs759820971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490004 SCV000577059 uncertain significance not provided 2018-10-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DMD gene. The D1318G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, while a missense variant at the same residue (D1318H) has been reported in associated with BMD (Taylor et al., 2007), the clinical significance of this variant also remains to be definitively determined. Furthermore, the majority of pathogenic variants in the DMD gene are exon-level deletions or duplications (Stenson et al., 2014). Finally, this variant is observed in 3/178252 (0.002%) alleles from individuals of multiple ethnic backgrounds, including one hemizygous individual, in large population cohorts, indicating this may be a rare benign variant (Lek et al., 2016). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001242084 SCV001415149 likely benign Duchenne muscular dystrophy 2024-09-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002475963 SCV002797615 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273878 SCV001457463 uncertain significance Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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