ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.44C>G (p.Thr15Ser)

gnomAD frequency: 0.00002  dbSNP: rs150849772
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916215 SCV001061448 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV001832071 SCV005373509 likely benign Hypophosphatasia 2024-10-08 criteria provided, single submitter clinical testing The variant is present in GnomAD, with a reported frequency of f = 0.0002226. Functional testing was undertaken at the JKU laboratory. The ACMG criteria applied and the functional testing results can be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at
Natera, Inc. RCV001832071 SCV002094047 benign Hypophosphatasia 2019-10-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551817 SCV004786863 likely benign ALPL-related disorder 2022-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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