ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.392del (p.Ser131fs)

dbSNP: rs1553412310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674696 SCV000800082 likely pathogenic Infantile hypophosphatasia 2018-05-22 criteria provided, single submitter clinical testing
Invitae RCV001382224 SCV001580896 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558430). This premature translational stop signal has been observed in individual(s) with hypophastasia (PMID: 11855933). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser131Thrfs*34) 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).
GeneDx RCV001382224 SCV004168864 pathogenic not provided 2023-11-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11855933)

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