ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.826G>C (p.Gly276Arg)

dbSNP: rs72551345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808119 SCV002058605 pathogenic Crigler-Najjar syndrome, type II 2022-01-03 criteria provided, single submitter clinical testing Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID:7852413, PS3_S). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.922, 3CNET: 0.985, PP3_P). A missense variant is a common mechanism associated with Crigler-Najjar syndrome (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000008, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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