ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1444del (p.Leu482fs)

gnomAD frequency: 0.00001  dbSNP: rs748233241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233551 SCV001406152 pathogenic not provided 2019-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu482Trpfs*40) in the ABCG8 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748233241, ExAC 0.003%). This variant has been observed in an individual affected with sitosterolemia (Invitae). Loss-of-function variants in ABCG8 are known to be pathogenic (PMID: 11452359, 15375183, 16029460). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001233551 SCV003837080 pathogenic not provided 2022-08-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33204594)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989650 SCV004808135 pathogenic Sitosterolemia 1 2024-03-29 criteria provided, single submitter clinical testing

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