ClinVar Miner

Submissions for variant NM_025081.3(NYNRIN):c.1916G>C (p.Gly639Ala)

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 RCV004075193 SCV003532698 uncertain significance not specified 2021-07-16 criteria provided, single submitter clinical testing The c.1916G>C (p.G639A) alteration is located in exon 4 (coding exon 3) of the NYNRIN gene. This alteration results from a G to C substitution at nucleotide position 1916, causing the glycine (G) at amino acid position 639 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099471 SCV005810624 uncertain significance not provided 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 639 of the NYNRIN protein (p.Gly639Ala). This variant is present in population databases (rs376129072, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with NYNRIN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2211576). 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.
PreventionGenetics, part of Exact Sciences RCV003973730 SCV004787321 likely benign NYNRIN-related disorder 2022-03-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.