ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.360_361del (p.Val121fs)

dbSNP: rs751994699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000584762 SCV000692559 pathogenic Skeletal dysplasia 2016-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001046634 SCV001210544 pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val121Glufs*4) 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 present in population databases (rs751994699, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 493003). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465318 SCV004193742 pathogenic Adult hypophosphatasia 2022-12-12 criteria provided, single submitter clinical testing

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