ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.61+2T>G

dbSNP: rs764322898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409382 SCV000485571 likely pathogenic Infantile hypophosphatasia 2016-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983033 SCV004800410 likely pathogenic ALPL-related condition 2024-01-23 criteria provided, single submitter clinical testing The ALPL c.61+2T>G variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in ALPL are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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.