Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989937 | SCV001140678 | pathogenic | Frontotemporal dementia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989937 | SCV002109884 | likely pathogenic | Frontotemporal dementia | 2021-11-06 | 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 is associated with increase of exon 9 (also known as exon 10) splicing, but the resulting mRNA isoform(s) may be naturally-occurring (PMID: 10775534). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 98217). This variant is also known as S305S. This variant has been observed in individuals with MAPT-related conditions (PMID: 16477083, 18093153, 23338682, 29253099). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 305 of the MAPT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MAPT protein. It affects a nucleotide within the consensus splice site. |
VIB Department of Molecular Genetics, |
RCV000084531 | SCV000116667 | not provided | not provided | no assertion provided | not provided |