ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr)

gnomAD frequency: 0.00001  dbSNP: rs922693472
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 RCV000797193 SCV000936739 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the RXYLT1 mRNA. It is expected to extend the length of the RXYLT1 protein by 4 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with RXYLT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 643486). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV003133615 SCV003814346 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2021-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782553 SCV005394695 uncertain significance not specified 2024-09-24 criteria provided, single submitter clinical testing Variant summary: RXYLT1 c.1332A>C (p.X444TyrextX4) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. RXYLT1 c.1332A>C (p.X444TyrextX4) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 2.9e-05 in 1499338 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in RXYLT1 causing Muscular Dystrophy-Dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 10, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1332A>C in individuals affected with Muscular Dystrophy-Dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 10 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 643486). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.