ClinVar Miner

Submissions for variant NM_017837.4(PIGV):c.134G>A (p.Arg45His)

gnomAD frequency: 0.00011  dbSNP: rs148135928
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
Eurofins Ntd Llc (ga) RCV000726136 SCV000342286 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000726136 SCV000583010 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768044 SCV000898879 uncertain significance Hyperphosphatasia with intellectual disability syndrome 1 2021-03-30 criteria provided, single submitter clinical testing PIGV NM_017837.3 exon 3 p.Arg45His (c.134G>A): This variant has not been reported in the literature but is present in 0.02% (7/34420) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-27120659-G-A). This variant is present in ClinVar (Variation ID:288236). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000726136 SCV002279921 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 45 of the PIGV protein (p.Arg45His). This variant is present in population databases (rs148135928, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PIGV-related conditions. ClinVar contains an entry for this variant (Variation ID: 288236). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIGV protein function. 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.

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.