ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.299T>C (p.Val100Ala)

gnomAD frequency: 0.00004  dbSNP: rs201186145
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
Genetic Services Laboratory, University of Chicago RCV000502289 SCV000595988 uncertain significance not specified 2016-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001350130 SCV001544508 uncertain significance Cernunnos-XLF deficiency 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 100 of the NHEJ1 protein (p.Val100Ala). This variant is present in population databases (rs201186145, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 435983). 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 NHEJ1 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.
Ambry Genetics RCV004023388 SCV004988195 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.299T>C (p.V100A) alteration is located in exon 3 (coding exon 2) of the NHEJ1 gene. This alteration results from a T to C substitution at nucleotide position 299, causing the valine (V) at amino acid position 100 to be replaced by an alanine (A). 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.