ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3313C>T (p.Leu1105Phe)

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
Ambry Genetics RCV002697212 SCV003550537 uncertain significance Inborn genetic diseases 2020-11-23 criteria provided, single submitter clinical testing The c.3313C>T (p.L1105F) alteration is located in exon 31 (coding exon 31) of the PHKA2 gene. This alteration results from a C to T substitution at nucleotide position 3313, causing the leucine (L) at amino acid position 1105 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003327590 SCV004034437 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005099544 SCV005773027 uncertain significance Glycogen storage disease IXa1 2024-11-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1105 of the PHKA2 protein (p.Leu1105Phe). This variant is present in population databases (rs139033266, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PHKA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2226546). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PHKA2 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.