Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000883983 | SCV001027332 | benign | not provided | 2018-11-03 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000988797 | SCV001138659 | uncertain significance | Rotor syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000988797 | SCV003799938 | pathogenic | Rotor syndrome | 2024-10-30 | criteria provided, single submitter | clinical testing | The SLCO1B3 c.205_209dup; p.Asp70GlufsTer13 variant (rs558592800, ClinVar Variation ID: 712105) is reported in the literature as one among several variants in one family with autism spectrum disorder, but with no details on hemolytic anemia or related phenotype (Yuen 2015). This variant is found in the Finnish European population with an allele frequency of 2.0% (499/24964 alleles, including 8 homozygotes) in the Genome Aggregation Database (v2.1.1). This variant causes a frameshift by inserting 5 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Since the mechanism of pathogenicity for SLCO1B3 is by loss-of-function, this variant is considered to be pathogenic. References: Yuen RK et al., Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015 Feb;21(2):185-91. PMID: 25621899. |
| Prevention |
RCV003975559 | SCV004789187 | likely benign | SLCO1B3-related disorder | 2021-09-01 | no assertion criteria provided | 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). |