ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) (rs1566630811)

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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 RCV000736265 SCV000864562 likely pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research not on exac. aminoacid change from polar to hydrophobic in the 1st luminal part of PSEN1, close and adjacent to pathogenic mutations with no charge change

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