ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.625A>T (p.Met209Leu)

dbSNP: rs1644530700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV001815065 SCV002061905 uncertain significance Hypophosphatasia 2021-12-16 criteria provided, single submitter clinical testing This variant is absent from large population studies. Functional studies performed at the JKU Hoegler lab showed reduced ALPL activity (https://alplmutationdatabase.jku.at/table/). ACMG Criteria used for classification: PS3_sup, PM2_sup, PP2_sup, PP3_sup, PP4_sup.

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