ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.990G>T (p.Glu330Asp)

gnomAD frequency: 0.00005  dbSNP: rs145761201
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 RCV000801075 SCV000940832 uncertain significance Peroxisome biogenesis disorder, complementation group K 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 330 of the PEX14 protein (p.Glu330Asp). This variant is present in population databases (rs145761201, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX14-related conditions. ClinVar contains an entry for this variant (Variation ID: 646727). 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) indicates that this missense variant is not expected to disrupt PEX14 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002537130 SCV003552099 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.990G>T (p.E330D) alteration is located in exon 9 (coding exon 9) of the PEX14 gene. This alteration results from a G to T substitution at nucleotide position 990, causing the glutamic acid (E) at amino acid position 330 to be replaced by an aspartic acid (D). 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.