ClinVar Miner

Submissions for variant NM_001001957.2(OR2W3):c.235C>T (p.Pro79Ser)

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 RCV002588068 SCV003490826 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 79 of the OR2W3 protein (p.Pro79Ser). This variant is present in population databases (rs746184186, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with OR2W3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2174680). 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 disruptive. 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 RCV004073405 SCV004996173 uncertain significance not specified 2023-10-16 criteria provided, single submitter clinical testing The c.235C>T (p.P79S) alteration is located in exon 1 (coding exon 1) of the OR2W3 gene. This alteration results from a C to T substitution at nucleotide position 235, causing the proline (P) at amino acid position 79 to be replaced by a serine (S). 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.