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Table 2 Functional characterization of hMLH1 variants in the in vivo yeast-based system

From: Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2genes in yeast

MLH1 alteration Nucleotide Change Mutation rate
(95% CI)
Functional classification Summary of other functional studies Summary of clinical data
Missense variant
A92P 274G>CA 2.07 × 10-6
(1.17 × 10-6 - 2.96 × 10-6)
non-pathogenic   
S93Gb 277A>G 6.22 × 10-6
(2.50 × 10-6 - 9.94 × 10-6)
probably
non-pathogenic
non-pathogenic probably pathogenic
T117M 350C>T 2.76 × 10-5
(1.28 × 10-5 - 4.23 × 10-5)
pathogenic pathogenic pathogenic
I219V 655A>G 6.50 × 10-6
(2.20 × 10-6 - 1.08 × 10-5)
probably
non-pathogenic
non-pathogenic non-pathogenic
K618Rb 1853A>G 4.99 × 10-6
(3.26 × 10-6 - 6.72 × 10-6)
probably
non-pathogenic
  probably pathogenic
K618Ta 1853A>C 3.97 × 10-6
(1.78 × 10-6 - 6.16 × 10-6)
non-pathogenic inconclusive non-pathogenic
Y646C 1937A>G 3.54 × 10-5
(1.78 × 10-5 - 5.31 × 10-5)
pathogenic non-pathogenic pathogenic
R659Q 1976G>A 1.77 × 10-5
(8.52 × 10-6 - 2.70 × 10-5)
pathogenic non-pathogenic pathogenic
Frameshift mutation
  1955 del 1 bp 1.86 × 10-4
(1.30 × 10-4 - 2.43 × 10-4)
loss-of-function   
  1. aThis variant is functionally indistinguishable from the wild-type (P > 0.05).
  2. bFunctional significance of the variant did not correlate with available clinical data.