ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)

gnomAD frequency: 0.00001  dbSNP: rs768976020
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000722315 SCV001579017 pathogenic not provided 2023-07-08 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: 591139). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu332*) 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 RCV003465651 SCV004193819 pathogenic Adult hypophosphatasia 2024-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021121 SCV005641668 likely pathogenic Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2024-03-22 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722315 SCV000853446 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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.