ClinVar Miner

Submissions for variant NM_004356.4(CD81):c.409G>A (p.Asp137Asn)

gnomAD frequency: 0.00006  dbSNP: rs767263004
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002041747 SCV002116809 uncertain significance not provided 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 137 of the CD81 protein (p.Asp137Asn). This variant is present in population databases (rs767263004, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CD81-related conditions. ClinVar contains an entry for this variant (Variation ID: 1347538). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003146252 SCV003829389 uncertain significance Immunodeficiency, common variable, 6 2020-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038767 SCV003955080 uncertain significance not specified 2023-04-04 criteria provided, single submitter clinical testing The c.409G>A (p.D137N) alteration is located in exon 5 (coding exon 5) of the CD81 gene. This alteration results from a G to A substitution at nucleotide position 409, causing the aspartic acid (D) at amino acid position 137 to be replaced by an asparagine (N). 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.