ClinVar Miner

Submissions for variant NM_000374.5(UROD):c.185C>T (p.Pro62Leu)

dbSNP: rs121918060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851501 SCV002220538 pathogenic not provided 2022-11-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt UROD protein function. ClinVar contains an entry for this variant (Variation ID: 70). This missense change has been observed in individual(s) with autosomal recessive hepatoerythropoietic porphyria or autosomal dominant porphyria cutanea tarda (PMID: 8644733, 10980536; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 62 of the UROD protein (p.Pro62Leu).
OMIM RCV000000088 SCV000020231 pathogenic Hepatoerythropoietic porphyria 1996-04-01 no assertion criteria provided literature only

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