ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp)

gnomAD frequency: 0.00022  dbSNP: rs137873804
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529675 SCV000652775 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 468 of the POMGNT2 protein (p.Arg468Trp). This variant is present in population databases (rs137873804, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 473274). 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 POMGNT2 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.
GeneDx RCV001764601 SCV001990875 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV001821601 SCV002071032 uncertain significance not specified 2018-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530215 SCV003708095 uncertain significance Inborn genetic diseases 2022-06-28 criteria provided, single submitter clinical testing The c.1402C>T (p.R468W) alteration is located in exon 2 (coding exon 1) of the POMGNT2 gene. This alteration results from a C to T substitution at nucleotide position 1402, causing the arginine (R) at amino acid position 468 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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