Table 3.

Common GALC Polymorphisms and Pathogenic Variants

Variant
Classification		DNA Nucleotide Change
(Alias 1)		Predicted Protein Change
(Alias 1)		Reference Sequences
Benign c.550C>Tp.Arg184Cys
(p.Arg168Cys)		 NM_000153​.3
NP_000144​.2
c.742G>Ap.Asp248Asn
(p.Asp232Asn)
c.1685T>Cp.Ile562Thr
(p.Ile546Thr)
Pathogenic (30-kb deletion) 2--
c.169G>A
(121G>A)		p.Gly57Ser
(Gly41Ser)
c.334A>G
(286A>G)		p.Thr112Ala
(Thr96Ala)
c.560A>T
(512A>T)		p.Asp187Val
(Asp171Val)
c.857G>A
(809G>A)		p.Gly286Asp 3
(Gly270Asp)
c.953C>T
(944C>T)		p.Pro318Arg
(p.Gly302Arg)
c.1472delA
(1424delA)		p.Lys491ArgfsTer62
c.1586C>T
(1538C>T)		p.Thr529Met
(Thr513Met)
c.1700A>C
(1652A>C)		p.Tyr567Ser
(Tyr551Ser)
c.1901T>C
(1853T>C)		p.Leu634Ser 4
(Leu618Ser)

See Quick Reference for an explanation of nomenclature. GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org).

1.

Historical variant designations that do not conform to current naming conventions. In this instance, the variant designations conform to the cDNA reference sequence in the HGMD database (see Table A) and some publications.

2.

Begins in intron 10 and deletes the remainder of the gene and additional contiguous sequences

3.

One copy of this allele together with another pathogenic variant results in late-onset disease.

4.

One copy of this allele together with another severe allele in the homozygous state is associated with late-onset disease [Hossain et al 2014, Zhang et al 2018].

From: Krabbe Disease

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