ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) (rs1553259647)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519245 SCV000617779 likely pathogenic not provided 2017-09-18 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the MPZ gene. The D134N variant has been reported previously as a pathogenic variant in several family members with CMT1 (Nelis et al., 1994). The D134N variant is not observed in large population cohorts (Lek et al., 2016). The D134N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. 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. Additionally, missense variants in nearby residues (I135T, G137S/A) have been reported in the Human Gene Mutation Database in association with MPZ-related disorders (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.
Inherited Neuropathy Consortium RCV000789467 SCV000928823 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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