Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001815827 | SCV002063629 | uncertain significance | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869641 | SCV002124370 | uncertain significance | Frontotemporal dementia | 2022-09-14 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1335279). This variant has not been reported in the literature in individuals affected with MAPT-related conditions. This variant is present in population databases (rs762595428, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 9 of the MAPT protein (p.Glu9Lys). |