Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV002499714 | SCV002776497 | uncertain significance | Familial juvenile hyperuricemic nephropathy type 1 | 2021-11-15 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001355988 | SCV004522066 | likely benign | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001355988 | SCV001551033 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The UMOD p.Gly253Asp variant was not identified in the literature nor was it identified in ClinVar or LOVD 3.0. The variant was identified in dbSNP (ID: rs760253448) and in control databases in 15 of 258220 chromosomes at a frequency of 0.00005809 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the Latino population in 15 of 33888 chromosomes (freq: 0.000443), but was not observed in the African, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Other, or South Asian populations. The p.Gly253 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |