ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)

gnomAD frequency: 0.00001  dbSNP: rs761836226
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001884220 SCV002153479 pathogenic not provided 2021-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp153*) 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, 19500388). This variant is present in population databases (rs761836226, gnomAD 0.002%). 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.
Baylor Genetics RCV003464207 SCV004193028 likely pathogenic Adult hypophosphatasia 2023-05-10 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001884220 SCV005199526 likely pathogenic not provided 2022-07-13 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV004765360 SCV005375314 pathogenic Infantile hypophosphatasia 2024-09-10 criteria provided, single submitter clinical testing The p.(Trp153*) variant was seen in compound heterozygosity together with a missense variant (p.Asn124Asp) in a fetus with Hypophosphatasia. The variant is classified as pathogenic based upon ACMG critera PVS1, PM2 and PP5.
Fulgent Genetics, Fulgent Genetics RCV005016747 SCV005642345 likely pathogenic Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2024-06-13 criteria provided, single submitter clinical testing

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