ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.434G>C (p.Arg145Pro) (rs398123952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080612 SCV000330932 pathogenic not provided 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000080612 SCV000570398 likely pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the DMD gene. The R145P variant has been previously reported in a boy with elevated CK, abnormal dystrophin on muscle biopsy, and a clinical diagnosis of Becker muscular dystrophy. The variant was reported be de novo in the child's mother (Greulich et al., 2015). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R145P 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. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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