ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1744G>A (p.Val582Ile)

gnomAD frequency: 0.00006  dbSNP: rs201358424
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000652067 SCV000773935 likely benign Infantile spasms 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025845 SCV003554055 uncertain significance not specified 2021-12-06 criteria provided, single submitter clinical testing The c.1744G>A (p.V582I) alteration is located in exon 12 (coding exon 12) of the PIK3AP1 gene. This alteration results from a G to A substitution at nucleotide position 1744, causing the valine (V) at amino acid position 582 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.