Table 7.

Notable SLC26A2 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change
(Alias 1)		Predicted
Protein Change
(Alias 1)		Comment [Reference]
NM_000112​.3 c.-26+2T>C
(IVS1+2T>C)		--Founder variant in Finland; only variant that has been identified in all 4 SLC26A2-related dysplasias, in compound heterozygosity w/mild (SLC26A2-MED & DTD) or severe (SLC26A2-related atelosteogenesis & ACG1B) alleles [Dwyer et al 2010]
NM_000112​.3
NP_000103​.2 		c.532C>T
(559C>T)		p.Arg178TerSecond most common variant (9% of alleles); assoc w/more severe DTD phenotype or perinatal-lethal SLC26A2-related atelosteogenesis, esp when combined in trans w/p.Arg279Trp variant
c.835C>T
(c.862C>T)		p.Arg279TrpMost common variant found outside of Finland (45% of alleles); mild SLC26A2-MED when homozygous & mostly DTD & SLC26A2-related atelosteogenesis when found in compound heterozygous state [Barbosa et al 2011]
c.1020_1022delTGT
(1045-1047delGTT)		p.Val341del
(Val340del)		See Molecular Pathogenesis.
c.1361A>C
(1388A>C)		p.Gln454ProSee Molecular Pathogenesis.
c.1957T>A
(1984T>A)		p.Cys653SerThird most common variant (8% of alleles); SLC26A2-MED when homozygous & SLC26A2-MED or DTD when present in trans w/other pathogenic variants [Czarny-Ratajczak et al 2010]
c.2033G>T
(2060G>T)		p.Gly678ValSee Molecular Pathogenesis.

ACG1B = achondrogenesis 1B; DTD = diastrophic dysplasia; MED = multiple epiphyseal dysplasia

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

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

1.

Variant designation that does not conform to current naming conventions

From: Diastrophic Dysplasia

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