ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057516334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410316 SCV000485489 likely pathogenic Infantile hypophosphatasia 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV001050992 SCV001215125 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg30*) 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 hypophosphatasia (PMID: 24145968). ClinVar contains an entry for this variant (Variation ID: 370232). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002502420 SCV002810551 pathogenic Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2021-11-09 criteria provided, single submitter clinical testing

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