ClinVar Miner

Submissions for variant NM_021027.3(UGT1A9):c.225G>A (p.Lys75=)

gnomAD frequency: 0.00534  dbSNP: rs41264153
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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 RCV000973231 SCV001120972 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029971 SCV004079564 likely benign not specified 2023-07-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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