Table 6. [Notable EXOSC3 Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_016042.3 NP_057126.2	c.92G>C	p.Gly31Ala	Founder variant in Roma population [Wan et al 2012, Rudnik-Schöneborn et al 2013]
c.238G>T	p.Val80Phe	Milder clinical course (See Genotype-Phenotype Correlations.) [Zanni et al 2013]
c.395A>C	p.Asp132Ala	Most prevalent pathogenic variant w/ancestral origin (allele frequency of 0.1% in European Americans) [Wan et al 2012, Rudnik-Schöneborn et al 2013] Milder clinical course [Rudnik-Schöneborn et al 2013, Eggens et al 2014] (See Genotype-Phenotype Correlations.) [Zanni et al 2013]
c.572G>A	p.Gly191Asp	Milder clinical course [Le Duc et al 2020] (See Genotype-Phenotype Correlations.) [Zanni et al 2013]

Reference Sequences

DNA Nucleotide
Change

Predicted
Protein Change

Comment [Reference]

NM_016042.3
NP_057126.2

c.92G>C

p.Gly31Ala

Founder variant in Roma population [Wan et al 2012, Rudnik-Schöneborn et al 2013]

c.238G>T

p.Val80Phe

Milder clinical course (See Genotype-Phenotype Correlations.) [Zanni et al 2013]

c.395A>C

p.Asp132Ala

Most prevalent pathogenic variant w/ancestral origin (allele frequency of 0.1% in European Americans) [Wan et al 2012, Rudnik-Schöneborn et al 2013]
Milder clinical course [Rudnik-Schöneborn et al 2013, Eggens et al 2014] (See Genotype-Phenotype Correlations.) [Zanni et al 2013]

c.572G>A

p.Gly191Asp

Milder clinical course [Le Duc et al 2020] (See Genotype-Phenotype Correlations.) [Zanni et al 2013]

From: EXOSC3 Pontocerebellar Hypoplasia

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