Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000015321 | SCV001201306 | pathogenic | Frontotemporal dementia | 2020-11-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect MAPT protein function (PMID: 20377816, 11756496). This variant has been observed in individual(s) with frontotemporal dementia (PMID: 9629852, 28130473). It has also been observed to segregate with disease in related individuals. This variant is also known as Val279Met in the literature. ClinVar contains an entry for this variant (Variation ID: 14252). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 337 of the MAPT protein (p.Val337Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. |
OMIM | RCV000015321 | SCV000035580 | pathogenic | Frontotemporal dementia | 2001-03-01 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084548 | SCV000116684 | not provided | not provided | no assertion provided | not provided |