ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)

dbSNP: rs1553414560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665524 SCV000789662 likely pathogenic Infantile hypophosphatasia 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV003558484 SCV004291736 pathogenic not provided 2023-06-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 550707). This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 27312557). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln347*) 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). For these reasons, this variant has been classified as Pathogenic.

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