ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.928_929del (p.Ser310fs)

dbSNP: rs1057516702
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409870 SCV000486084 likely pathogenic Infantile hypophosphatasia 2016-03-24 criteria provided, single submitter clinical testing
Invitae RCV001850948 SCV002245711 pathogenic not provided 2022-10-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 15694177). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser310Argfs*27) 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).
Baylor Genetics RCV003470331 SCV004193139 pathogenic Adult hypophosphatasia 2023-03-27 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.