Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084292 | SCV001145224 | likely pathogenic | not provided | 2019-04-04 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/282660 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. |
Invitae | RCV001228362 | SCV001400758 | likely pathogenic | Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 | 2019-10-16 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Leu113 amino acid residue in PSEN1. Other variant(s) that disrupt this residue have been observed in individuals with PSEN1-related conditions (PMID: 15776278), which suggests that this may be a clinically significant amino acid residue. This variant has been reported not to substantially affect PSEN1 protein function (PMID: 17431506, 20634584). This variant has been observed in an individual and a family affected with clinical features of early-onset Alzheimer's disease (PMID: 11094121, Invitae). This gene is also known as PS1 in the literature. ClinVar contains an entry for this variant (Variation ID: 18145). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 113 of the PSEN1 protein (p.Leu113Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
OMIM | RCV000019775 | SCV000040073 | pathogenic | Frontotemporal dementia | 2000-11-28 | no assertion criteria provided | literature only | |
Gene |
RCV000020084 | SCV000040384 | not provided | Alzheimer disease 3 | no assertion provided | literature only | ||
VIB Department of Molecular Genetics, |
RCV000084292 | SCV000116428 | not provided | not provided | no assertion provided | not provided |