TABLE 1.
(Likely) benign variants in MLC1 and variants with an uncertain link to MLC.
| Exon/Intron | DNA | Protein | Variant type | Allele freq a | Allele count a | Pathogenicity (ACMG guidelines) | References | Extra info |
|---|---|---|---|---|---|---|---|---|
| (Likely) benign variants | ||||||||
| 5 | c.369T>C | p.(Thr123Thr) | synonymous | 0 | 0 | Likely benign | Shukla et al. (2011) | |
| 7 | c.594C>T | p.(Tyr198Tyr) | synonymous | 0.1304 | 122,588 | Benign | Shukla et al. (2011) | |
| 7 | c.597A>G | p.(Ser199Ser) | synonymous | 0.1306 | 122,787 | Benign | Shukla et al. (2011) | |
| 6 | c.512G>T | p.(Cys171Pro) | Missense | 0.1296 | 121,825 | Benign | Leegwater et al. (2002), Wang et al. (2011) | |
| Variants with uncertain link to MLC | ||||||||
| 10 | c.858C>G | p.(Ile286Met) | Missense | 0 | 0 | variant of unknown significance | Cao et al. (2016) | Discussed in section 3.1.5 |
| 2 | c.95C>T | p.(Ala32Val) | Missense | 2.02*10^-5 | 19 | variant of unknown significance | Wang et al. (2011), van der Knaap et al. (2012), Cao et al. (2016) | Discussed in section 3.1.5 |
a
Allele frequency and allele count based on 469,831 individuals for whom whole exome sequencing was available in the UK Biobank.