ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1429G>A (p.Val477Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002964738 SCV003687778 uncertain significance Inborn genetic diseases 2022-04-06 criteria provided, single submitter clinical testing The c.1429G>A (p.V477M) alteration is located in exon 7 (coding exon 6) of the UMOD gene. This alteration results from a G to A substitution at nucleotide position 1429, causing the valine (V) at amino acid position 477 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730329 SCV004537550 uncertain significance not provided 2024-11-14 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 477 of the UMOD protein (p.Val477Met). This variant is present in population databases (rs747915538, gnomAD 0.04%), 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 UMOD-related conditions. ClinVar contains an entry for this variant (Variation ID: 2353098). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt UMOD protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV005021739 SCV005638461 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-01-10 criteria provided, single submitter clinical testing

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