ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs)

dbSNP: rs1057517322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412106 SCV000487102 likely pathogenic Infantile hypophosphatasia 2016-10-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463806 SCV004195085 likely pathogenic Adult hypophosphatasia 2023-06-14 criteria provided, single submitter clinical testing
Invitae RCV003558365 SCV004291738 pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser364Argfs*42) 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 premature translational stop signal has been observed in individual(s) with biochemical features of autosomal dominant hypophosphatasia (PMID: 26783040). For these reasons, this variant has been classified as Pathogenic.

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