ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.26del (p.Ser9fs) (rs1064795521)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478795 SCV000571412 likely pathogenic not provided 2016-08-18 criteria provided, single submitter clinical testing The c.26delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. 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 c.26delG variant causes a frameshift starting with codon Serine 9, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 38 of the new reading frame, denoted p.Ser9ThrfsX38. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, other frameshift variants have been reported in the Human Gene Mutation Database in association with MPZ-related disorders (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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