ClinVar Miner

Submissions for variant NM_000374.5(UROD):c.442C>T (p.Arg148Cys)

gnomAD frequency: 0.00032  dbSNP: rs147374926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001097206 SCV001253465 uncertain significance Familial porphyria cutanea tarda 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002554907 SCV003289741 uncertain significance not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 148 of the UROD protein (p.Arg148Cys). This variant is present in population databases (rs147374926, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with UROD-related conditions. ClinVar contains an entry for this variant (Variation ID: 874341). 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) has been performed 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 UROD 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.

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