Table 5.

Notable CHCHD10 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_213720​.3
NP_998885​.1 		c.197G>Tp.Gly66ValFounder variant in Finnish population, assoc w/late-onset SMN (or SMAJ) [Penttilä et al 2015] & axonal CMT disease [Auranen et al 2015]
c.176C>Tp.Ser59LeuVariant assoc w/late-onset complex phenotype incl motor neuron disease, cognitive decline resembling FTD, cerebellar ataxia, & myopathy [Bannwarth et al 2014]
c.[43C>A;172G>C]p.[Arg15Ser;Gly58Arg]Variants reported in cis in persons w/early-onset isolated mitochondrial myopathy [Ajroud-Driss et al 2015]
c.44G>Tp.Arg15LeuVariant observed to segregate w/ALS in several families; likely responsible for <1% of familial ALS [Tazelaar et al 2018].

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.

ALS = amyotrophic lateral sclerosis; CMT = Charcot-Marie-Tooth; FTD = frontotemporal dementia; SMAJ = spinal muscular atrophy, Jokela type; SMN = spinal motor neuropathy

From: CHCHD10-Related Disorders

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