ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.699_702del (p.Ser233fs) (rs1571817103)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008812 SCV001168613 likely pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the MPZ gene. The c.699_702delTGAG variant has been reported previously as 1560del4, using alternative nomenclature, in 3 members of a family with CMT (Bellone et al., 1996). Functional studies showing abnormal aggregation of c.699_702delTGAG mutant cells in the ER, reported as S233fs due to the use of alternative nomenclature, suggest a disruption of normal MPZ function (Lee et al., 2010). The deletion causes a frameshift starting with codon Serine 233, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Ser233ArgfsX18. This variant alters the protein as the last 16 amino acids are replaced by 17 incorrect amino acids. The c.699_702delTGAG variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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