Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003740384 | SCV004552553 | uncertain significance | not provided | 2024-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 130 of the UMOD protein (p.Val130Ala). This variant is present in population databases (rs753916851, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with UMOD-related conditions. 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 95%. 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. |
| Ambry Genetics | RCV004374329 | SCV004977869 | uncertain significance | Inborn genetic diseases | 2023-11-28 | criteria provided, single submitter | clinical testing | The c.389T>C (p.V130A) alteration is located in exon 3 (coding exon 2) of the UMOD gene. This alteration results from a T to C substitution at nucleotide position 389, causing the valine (V) at amino acid position 130 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005014939 | SCV005638538 | uncertain significance | Familial juvenile hyperuricemic nephropathy type 1 | 2024-05-21 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004738878 | SCV005349191 | uncertain significance | UMOD-related disorder | 2024-05-31 | no assertion criteria provided | clinical testing | The UMOD c.389T>C variant is predicted to result in the amino acid substitution p.Val130Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |