ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1185_1188del (p.Ile395fs)

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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 RCV003567648 SCV004325873 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile395Metfs*7) 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 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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