ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.-26-193C>A

gnomAD frequency: 0.00001  dbSNP: rs397515350
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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 RCV001851634 SCV002233173 pathogenic not provided 2021-03-27 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the UROS gene. It does not directly change the encoded amino acid sequence of the UROS protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with congenital erythropoietic porphyria (PMID: 11254675). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as -86C>A. ClinVar contains an entry for this variant (Variation ID: 3764). Experimental studies have shown that this variant affects UROS protein function (PMID: 11254675). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003962 SCV000024127 pathogenic Cutaneous porphyria 2001-03-01 no assertion criteria provided literature only

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