ClinVar Miner

Submissions for variant NM_016835.4(MAPT):c.783G>A (p.Ala261=) (rs200385096)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635208 SCV000756591 uncertain significance Frontotemporal dementia 2017-10-03 criteria provided, single submitter clinical testing This sequence change is a silent change at codon 261 of the MAPT protein. The MAPT gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001123066.3, which corresponds to position c.374-3453G>A in NM_005910.5, the primary transcript listed in the Methods. This variant is present in population databases (rs200385096, ExAC 0.008%). This variant has not been reported in the literature in individuals with MAPT-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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