Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000015321 | SCV001201306 | pathogenic | Frontotemporal dementia | 2019-12-22 | criteria provided, single submitter | clinical testing | 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. This variant is not present in population databases (ExAC no frequency). 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 has been reported to affect MAPT protein function (PMID: 20377816, 11756496). For these reasons, this variant has been classified as Pathogenic. |
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 |