ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.145del (p.His49fs)

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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 RCV005145762 SCV005775560 pathogenic Sitosterolemia 2024-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His49Thrfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCG5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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