ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1355G>A (p.Arg452His)

gnomAD frequency: 0.00002  dbSNP: rs200710643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947990 SCV002188058 uncertain significance Frontotemporal dementia 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, a(n) basic and polar amino acid, with histidine, a(n) basic and polar amino acid, at codon 126 of the MAPT protein (p.Arg126His). This variant is present in population databases (rs200710643, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of amyotrophic lateral sclerosis (PMID: 26601740). 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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