Table 8. [Notable GLA Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change	Comment [Reference]
NM_000169.3 NP_000160.1	c.272T>C	p.Ile91Thr	Assoc w/late-onset cardiac disease [Patel et al 2015]
c.335G>A	p.Arg112His
c.337T>C	p.Phe113Leu
c.352C>T	p.Arg118Cys	VUS; reported to ↑ risk of cerebrovascular disease [Ferreira et al 2015]
c.427G>A	p.Ala143Thr	VUS; reported assoc w/kidney failure, stroke, & LVH [Terryn et al 2013]
c.427G>C	p.Ala143Pro	Founder variant in Nova Scotia [Kirkilionis et al 1991]
NM_000169.3	c.640-801G>A (IVS4+919G>A; c.639+919G>A)	--	Founder variant in Taiwan & China; assoc w/late-onset cardiac disease [Liu et al 2015]
NM_000169.3 NP_000160.1	c.644A>G	p.Asn215Ser	Assoc w/late-onset cardiac disease [Patel et al 2015]
c.888G>A	p.Met296Ile
c.902G>A	p.Arg301Gln
c.982G>A	p.Gly328Arg

Reference Sequences

DNA Nucleotide Change
(Alias ¹)

Predicted
Protein Change

Comment [Reference]

NM_000169.3
NP_000160.1

c.272T>C

p.Ile91Thr

Assoc w/late-onset cardiac disease [Patel et al 2015]

c.335G>A

p.Arg112His

c.337T>C

p.Phe113Leu

c.352C>T

p.Arg118Cys

VUS; reported to ↑ risk of cerebrovascular disease [Ferreira et al 2015]

c.427G>A

p.Ala143Thr

VUS; reported assoc w/kidney failure, stroke, & LVH [Terryn et al 2013]

c.427G>C

p.Ala143Pro

Founder variant in Nova Scotia [Kirkilionis et al 1991]

NM_000169.3

c.640-801G>A (IVS4+919G>A; c.639+919G>A)

Founder variant in Taiwan & China; assoc w/late-onset cardiac disease [Liu et al 2015]

NM_000169.3
NP_000160.1

c.644A>G

p.Asn215Ser

Assoc w/late-onset cardiac disease [Patel et al 2015]

c.888G>A

p.Met296Ile

c.902G>A

p.Arg301Gln

c.982G>A

p.Gly328Arg

From: Fabry Disease

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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