ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.412del (p.Arg138fs)

dbSNP: rs1312528958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388723 SCV001589799 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALPL are known to be pathogenic (PMID: 3174660, 10679946, 19500388). This variant has not been reported in the literature in individuals with ALPL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg138Glyfs*27) in the ALPL gene. It is expected to result in an absent or disrupted protein product.
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV003448409 SCV004175884 pathogenic Hypophosphatasia 2023-06-20 criteria provided, single submitter clinical testing GnomAd frequency = 0.000193 (East Asian). The ACMG criteria applied can be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at/

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