ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1999-10G>T

dbSNP: rs63749974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084520 SCV002822403 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing MAPT: PP1:Strong, PM2, PP4:Moderate, PS4:Moderate
Invitae RCV002513906 SCV003442395 pathogenic Frontotemporal dementia 2022-07-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the MAPT gene. It does not directly change the encoded amino acid sequence of the MAPT protein. This variant has been observed in individuals with frontotemporal dementia (PMID: 16503405, 34274155; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Other variant(s) that result in increase of 4R-tau to 3R-tau ratio have been determined to be pathogenic (PMID: 9641683, 26297556). This suggests that this variant may also be clinically significant and likely to be disease-causing. Studies have shown that this variant is associated with altered splicing resulting in increase of 4R-tau to 3R-tau ratio (PMID: 16503405, 34274155). ClinVar contains an entry for this variant (Variation ID: 98212).
VIB Department of Molecular Genetics, University of Antwerp RCV000084520 SCV000116656 not provided not provided no assertion provided not provided

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