Table 2.
Clinically established and ACMG reportable variants in ALS-associated genes: 22 changes in 21 individuals
| Sample | Gene | Genomic variant | Protein change (HGVSp canonical) | Population frequency (gnomAD) | Classification |
| SHF-094 | ALS2 | chr2:g.202625839G>A | p.Thr293Ile | 1.00E−05 | Pathogenic |
| SHF-014 | C9orf72 | – | – | NA | Pathogenic |
| SHF-017 | C9orf72 | – | – | NA | Pathogenic |
| SHF-018 | C9orf72 | – | – | NA | Pathogenic |
| SHF-043 | C9orf72 | – | – | NA | Pathogenic |
| SHF-081 | C9orf72 | – | – | NA | Pathogenic |
| SHF-083 | C9orf72 | – | – | NA | Pathogenic |
| SHF-103 | C9orf72 | – | – | NA | Pathogenic |
| SHF-138 | C9orf72 | – | – | NA | Pathogenic |
| SHF-152 | C9orf72 | – | – | NA | Pathogenic |
| SHF-162 | C9orf72 | – | – | NA | Pathogenic |
| SHF-021 | ATXN2 | – | – | NA | Likely pathogenic |
| SHF-065 | FIG4 | chr6:g.110107620T>TA | p.Thr689AsnfsTer12 | None | Likely pathogenic |
| SHF-080 | FIG4 | chr6:g.110036336T>C | p.Ile41Thr | 0.00102 | Pathogenic |
| SHF-094 | NEFH | chr22:g.29885959C>T | p.Pro777Leu | 3.00E−05 | Pathogenic |
| SHF-006 | SOD1 | chr21:g.33039672T>C | p.Ile114Thr | 5.00E−05 | Pathogenic |
| SHF-039 | SOD1 | chr21:g.33039672T>C | p.Ile114Thr | 5.00E−05 | Pathogenic |
| SHF-078 | SOD1 | chr21:g.33039672T>C | p.Ile114Thr | 5.00E−05 | Pathogenic |
| SHF-082 | SOD1 | chr21:g.33040846C>A | p.Asn140Lys | 0 | Pathogenic |
| SHF-007 | SOD1 | chr21:g.33038821G>T | p.Asp77Tyr | None | Pathogenic |
| SHF-085 | SPG11 | chr15:g.44856883G>A | p.Ala2338Val | 1.00E−05 | Likely pathogenic |
| SHF-084 | TBK1 | chr12:g.64891000TGAA>T | p.Glu643del | 1.00E−05 | Likely pathogenic |
ACMG, American College of Medical Genetics and Genomics; ALS, amyotrophic lateral sclerosis; NA, not available.