ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003506686 SCV004369566 pathogenic Sitosterolemia 2023-06-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs770488364, gnomAD 0.02%). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ABCG5-related conditions. This sequence change creates a premature translational stop signal (p.Glu123*) in the ABCG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCG5 are known to be pathogenic (PMID: 11138003, 25665839).

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