ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.233G>T (p.Gly78Val)

dbSNP: rs144397565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517408 SCV000614043 uncertain significance not specified 2016-11-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726210 SCV001961700 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Invitae RCV002525052 SCV003255889 uncertain significance Frontotemporal dementia 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 107 of the MAPT protein (p.Gly107Val). This variant is present in population databases (rs144397565, gnomAD 0.003%). This missense change has been observed in individual(s) with MAPT-related conditions (PMID: 27776828). ClinVar contains an entry for this variant (Variation ID: 447706). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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