ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)

dbSNP: rs143740796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350898 SCV001545326 likely pathogenic Sitosterolemia 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 305 of the ABCG5 protein (p.Thr305Arg). This variant is present in population databases (rs143740796, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of dyslipidemia and/or sitosterolemia (PMID: 28696550, 32041611). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1046346). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280904 SCV002569279 pathogenic Sitosterolemia 2 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245972 SCV002515650 pathogenic Sitosterolemia 1 no assertion criteria provided research

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