Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084527 | SCV000614049 | pathogenic | not provided | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000015313 | SCV000813769 | pathogenic | Frontotemporal dementia | 2020-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 301 of the MAPT protein (p.Pro301Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with frontotemporal dementia in several families (PMID: 9641683, 26220942, 27439681). ClinVar contains an entry for this variant (Variation ID: 14245). Experimental studies have shown that this missense change alters microtubule binding with altered MAPT isoform ratio leading to the formation of neurofibrillary tangles (PMID: 9641683, 26269332, 25592136, 26220942, 11756436). Mouse models recapitulate the human frontotemporal dementia phenotype (PMID: 22723997, 26519432, 22022446). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000763405 | SCV000894132 | pathogenic | Frontotemporal dementia; Parkinson disease, late-onset; Parkinson-dementia syndrome; Pick disease; Progressive supranuclear ophthalmoplegia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000015313 | SCV001150159 | pathogenic | Frontotemporal dementia | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000084527 | SCV001961704 | pathogenic | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015313 | SCV000035572 | pathogenic | Frontotemporal dementia | 2009-07-14 | no assertion criteria provided | literature only | |
OMIM | RCV000015314 | SCV000035573 | pathogenic | Progressive supranuclear ophthalmoplegia | 2009-07-14 | no assertion criteria provided | literature only | |
VIB Department of Molecular Genetics, |
RCV000084527 | SCV000116663 | not provided | not provided | no assertion provided | not provided |