ClinVar Miner

Submissions for variant NM_005910.5(MAPT):c.1052A>G (p.Gln351Arg) (rs1568339821)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736258 SCV000864555 likely pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research not on molgen, not on exac, not on exome variant server. In silico predictions conflicting but mostly damaging. Aminoacid change form uncharged polarised to positively charged, only slightly bigger.

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