ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.129_136del (p.Ser44fs) (rs760730366)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235941 SCV000293537 pathogenic not provided 2017-01-09 criteria provided, single submitter clinical testing The c.129_136delCTCCCGGG variant in the MPZ gene has been reported previously as a pathogenic variant associated with CMT; however, no other information was provided (DiVincenzo et al., 2014). The deletion causes a frameshift starting with codon Serine 44, changes this amino acid to an Aspartic acid residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Ser44AspfsX10. 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. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation.
Inherited Neuropathy Consortium RCV000790073 SCV000929463 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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