Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001953160 | SCV002217656 | uncertain significance | Frontotemporal dementia | 2023-08-22 | 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. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 41 of the MAPT protein (p.Ala41Thr). This variant is present in population databases (rs115239819, gnomAD 0.007%). This missense change has been observed in individual(s) with Alzheimer disease (PMID: 25604855, 29525180). ClinVar contains an entry for this variant (Variation ID: 1442775). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |