ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)

dbSNP: rs63750568
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Total submissions: 3
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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 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with MAPT-related conditions (PMID: 16477083, 18093153, 23338682, 29253099). This variant is also known as S305S. ClinVar contains an entry for this variant (Variation ID: 98217). 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. 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.
VIB Department of Molecular Genetics, University of Antwerp RCV000084531 SCV000116667 not provided not provided no assertion provided not provided

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