ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)

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 RCV002895709 SCV003249990 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-09-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 576 of the POMGNT1 protein (p.Val576Met). This variant is present in population databases (rs142895576, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POMGNT1 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.
Revvity Omics, Revvity RCV003130775 SCV003811754 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066094 SCV005007226 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.1726G>A (p.V576M) alteration is located in exon 20 (coding exon 19) of the POMGNT1 gene. This alteration results from a G to A substitution at nucleotide position 1726, causing the valine (V) at amino acid position 576 to be replaced by a methionine (M). 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.