ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu)

gnomAD frequency: 0.00001  dbSNP: rs371657025
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
Invitae RCV001232565 SCV001405127 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 349 of the PIGO protein (p.Ser349Leu). This variant is present in population databases (rs371657025, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 959255). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001232565 SCV002798260 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033173 SCV005005600 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.1046C>T (p.S349L) alteration is located in exon 6 (coding exon 5) of the PIGO gene. This alteration results from a C to T substitution at nucleotide position 1046, causing the serine (S) at amino acid position 349 to be replaced by a leucine (L). 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.