ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.158del (p.Asn53fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005139060 SCV005765594 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn53Metfs*15) in the ALPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALPL are known to be pathogenic (PMID: 3174660, 10679946, 32973344, 33814268). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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