Table 4.

Notable CLCN1 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment
NM_000083​.2
NP_000074​.2 		c.689G>Ap.Gly230GluAssoc w/AR & AD MOI 1
c.929C>TpThr310MetAssoc w/AR & AD MOI 1
c.1592C>Tp.Ala531ValAssoc w/AR & AD MOI 1
c.2680C>Tp.Arg894TerMost common variant assoc w/both AR & AD MOI. 1 Interpretation should be performed w/caution: variant is frequently found in persons presumed to be healthy, an indication of ↓ penetrance. 2

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance

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.

Most of the following reports regarding the p.Arg894Ter variant predate the gnomAD data set (see footnote 2): Koty et al [1996], Mailänder et al [1996], Zhang et al [1996], Plassart-Schiess et al [1998], Dunø et al [2004], Bernard et al [2008], Richardson et al [2014].

2.

From: Myotonia Congenita

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