PSEN1 variant | Variant location | Variant type/consequence | GnomAD ClinVar EVS | SIFT | CADD | Clinical significance according to the ACMG criteria (Varsome) | Clinical significance according to the ACMG criteria (Franklin by Genoox) | In vitro analysisa | Clinical significanceb |
---|---|---|---|---|---|---|---|---|---|
p.Val103_Ser104delinsGly | c.308_310del 4 chr14:73637725 | Deletion, in frame | NP | NA | NA | Pathogenic | Pathogenic | Yes | AD : Pathogenic |
p.Lys395Ile | c.1184A>T 11 chr14:73664760 | Point, missense | NP | Damaging | 31 | Pathogenic | Pathogenic | Yes | AD : Pathogenic |
p.Pro264Se | c.790C>T 8 chr14:73683888 | Point, missense | NP | Damaging | 28.4 | Pathogenic | Likely pathogenic | Yes | AD : Pathogenic |
p.Ala275Thr | c.823G>A 8 chr14:73664792 | Point, missense | NP | Damaging | 29.4 | Likely pathogenic | Likely pathogenic | Yes | AD : Pathogenic |
p. Ile414Thr | c.1241T>C 11 chr14:73683945 | Point, missense | NP | Damaging | 28.4 | Likely pathogenic | Likely pathogenic | No | Not Pathogenic/ Risk factor |