ClinVar Miner

Submissions for variant NM_000375.3(UROS):c.-26-183G>A

dbSNP: rs397515349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851633 SCV002242575 pathogenic not provided 2023-12-02 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with congenital erythropoietic porphyria (PMID: 11254675, 16365260, 27859603). It has also been observed to segregate with disease in related individuals. This variant is also known as -76G>A or 1-209G>A. ClinVar contains an entry for this variant (Variation ID: 3763). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects UROS function (PMID: 27859603). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003961 SCV000024126 pathogenic Cutaneous porphyria 2001-03-01 no assertion criteria provided literature only
GeneReviews RCV000003961 SCV000086645 pathogenic Cutaneous porphyria 2016-04-07 no assertion criteria provided literature only

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