ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs) (rs1571817544)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008332 SCV001168100 likely pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the MPZ gene. The c.615_617delAGGinsC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.615_617delAGGinsC variant causes a frameshift starting with codon Glycine 206, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Gly206LysfsX28. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 43 amino acids are replaced with 27 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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