ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)

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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 RCV004696623 SCV005187355 likely pathogenic Hypophosphatasia 2024-08-13 criteria provided, single submitter clinical testing The variant is absent from GnomAD. The ACMG criteria applied can be looked up in the ALPL gene variant database (https://alplmutationdatabase.jku.at). Functional testing was undertaken at the JKU laboratory.

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