ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.380C>T (p.Thr127Ile)

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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 RCV005215812 SCV005702154 likely pathogenic Hypophosphatasia 2024-12-10 criteria provided, single submitter curation This missense variant is not present in GnomAD 4.1 and affects a moderately conserved amino acid. The variant is predicted to affect protein function (REVEL score: 0.925). Splice-prediction algorithms predict no effect on splicing. In vitro functional studies showed reduced ALP activity without dominant negative effect. The results of the functional testing and the applied ACMG criteria can be viewed at: https://alplmutationdatabase.jku.at/table/

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