Is MPZ p.Lys201fs (c.600dup) pathogenic?

MPZ p.Lys201fs (c.600dup) is classified Likely pathogenic in MPZ (ClinVar, Single submitter, 1 submitter; last evaluated 2017-09-27). No gnomAD frequency available for this variant; Associated with Inborn genetic diseases.

What condition is associated with MPZ p.Lys201fs (c.600dup)?

MPZ p.Lys201fs (c.600dup) is associated with Inborn genetic diseases (ClinVar).

How common is MPZ p.Lys201fs (c.600dup) in the general population?

MPZ p.Lys201fs (c.600dup) is no gnomAD frequency available for this variant (gnomAD).

MPZ p.Lys201fs

c.600dup · rs1553259529 · VCV521970

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon within the last 50 nt of the penultimate exon (5 of 6, 44 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP 1.4, phastCons 0.88

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: MPZ
Protein: p.Lys201fs
Coding: c.600dup
MANE Select: NM_000530
dbSNP: rs1553259529
Type: Duplication
Location: chr1:161306152 (GRCh38)
Gene constraint: LOEUF 0.708 · pLI 0.11 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 82.38 · 2 PDB

Full MPZ gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MPZ p.Thr216fs Pathogenic/Likely pathogenic ★★ same condition
MPZ p.Trp101fs Pathogenic ★★ same condition
MPZ p.Asp61fs Pathogenic ★ same condition
MPZ p.Lys201Ter Pathogenic ★ same residue
MPZ c.448+1G>A Pathogenic/Likely pathogenic ★★ same condition
MPZ c.68-1G>A Pathogenic/Likely pathogenic ★★ same condition
MPZ p.Arg98Pro Pathogenic/Likely pathogenic ★★ same condition
MPZ p.Asp224Tyr Pathogenic/Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mpz-p-lys201fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown