ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)

gnomAD frequency: 0.00002  dbSNP: rs762595428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815827 SCV002063629 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Invitae RCV001869641 SCV002124370 uncertain significance Frontotemporal dementia 2022-09-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1335279). This variant has not been reported in the literature in individuals affected with MAPT-related conditions. This variant is present in population databases (rs762595428, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 9 of the MAPT protein (p.Glu9Lys).

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