Table 8.

Notable RFC1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeRepeat Range
NM_001204747​.1 c.132+2923_2927AAAAG[11]--Normal
c.132+2923_2927AAAAG[12_200]--Normal
c.132+2923_2927AAAGG[40_~1000]--Normal
c.132+2923_2927ACAGG 1Uncertain significance
c.132+2923_2927AAGGG[~400_~2000] 2Pathogenic (full-penetrance)

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.

Not available, but reported to be in the same range as AAGGG expansions [Author, personal observation]

2.

In 13 affected individuals of New Zealand Māori and Cook Island ancestry, the core AAGGG expansion was identified to be flanked by short AAAGG expansion arms, resulting in the configuration (AAAGG)10-25(AAGGG)exp (AAAGG)4-6 [Beecroft et al 2020].

From: RFC1 CANVAS / Spectrum Disorder

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