ClinVar Miner

Submissions for variant NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser)

gnomAD frequency: 0.00184  dbSNP: rs146623116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001114406 SCV001272286 benign Rotor syndrome 2017-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001114406 SCV001471044 uncertain significance Rotor syndrome 2020-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918698 SCV004734490 likely benign SLCO1B3-related condition 2022-02-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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