ClinVar Miner

Submissions for variant NM_019844.4(SLCO1B3):c.1610A>G (p.Tyr537Cys)

gnomAD frequency: 0.00034  dbSNP: rs150998576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803208 SCV001159870 uncertain significance Rotor syndrome 2023-05-09 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001803208 SCV002059707 uncertain significance Rotor syndrome 2020-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424527 SCV004116632 uncertain significance SLCO1B3-related disorder 2024-09-23 no assertion criteria provided clinical testing The SLCO1B3 c.1610A>G variant is predicted to result in the amino acid substitution p.Tyr537Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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