ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)

dbSNP: rs775463336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784004 SCV002021593 likely pathogenic not provided 2023-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001784004 SCV002230140 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala27Valfs*25) in the UGT1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UGT1A1 are known to be pathogenic (PMID: 23290513). This variant is present in population databases (rs775463336, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with UGT1A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1325329). For these reasons, this variant has been classified as Pathogenic.

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