ClinVar Miner

Submissions for variant NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln)

gnomAD frequency: 0.00004  dbSNP: rs559896573
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000735958 SCV000864147 uncertain significance Colorectal cancer 2015-02-01 criteria provided, single submitter research Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 39 year old male with a family history of colorectal cancer and/or polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Labcorp Genetics (formerly Invitae), Labcorp RCV001071983 SCV001237324 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 494 of the SEMA4A protein (p.Arg494Gln). This variant is present in population databases (rs559896573, 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 SEMA4A-related conditions. ClinVar contains an entry for this variant (Variation ID: 599330). 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 SEMA4A 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.
Genome-Nilou Lab RCV003338779 SCV004048594 uncertain significance Cone-rod dystrophy 10 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338778 SCV004048595 uncertain significance Retinitis pigmentosa 35 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV005268742 SCV005935632 uncertain significance not specified 2025-01-04 criteria provided, single submitter clinical testing The c.1481G>A (p.R494Q) alteration is located in exon 13 (coding exon 12) of the SEMA4A gene. This alteration results from a G to A substitution at nucleotide position 1481, causing the arginine (R) at amino acid position 494 to be replaced by a glutamine (Q). 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.