ClinVar Miner

Submissions for variant NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)

gnomAD frequency: 0.00001  dbSNP: rs121918061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626082 SCV000746706 likely pathogenic Sporadic porphyria cutanea tarda 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851502 SCV002169014 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects UROD protein function (PMID: 8644733). 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. This variant has been observed in individual(s) with autosomal recessive hepatoerythropoietic porphyria (PMID: 8644733). ClinVar contains an entry for this variant (Variation ID: 71). This variant is present in population databases (rs121918061, ExAC 0.003%). This sequence change replaces tyrosine with cysteine at codon 311 of the UROD protein (p.Tyr311Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
OMIM RCV000000089 SCV000020232 pathogenic Hepatoerythropoietic porphyria 1996-04-01 no assertion criteria provided literature only

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