ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.511G>C (p.Ala171Pro)

dbSNP: rs755452188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442712 SCV000520971 likely pathogenic not provided 2016-10-18 criteria provided, single submitter clinical testing An A171P variant that is likely pathogenic has been identified in the DMD gene. The A171P variant has been reported previously in an individual with Becker muscular dystrophy (Eraslan et al., 1999). Functional studies indicated that A171P decreases thermodynamic stability, increases misfolding, and causes protein aggregation (Singh et al., 2010). The A171P variant 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 A171P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants in nearby residues (G166V, A168D, L172H) have been reported in the Human Gene Mutation Database in association with dystrophinopathy (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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