ClinVar Miner

Submissions for variant NC_000002.11:g.(?_44047116)_(44053814_?)del

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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 RCV004582455 SCV005067816 likely pathogenic Sitosterolemia 2019-06-07 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 6-10 and part of exon 11 and the insertion of 30 unrelated nucleotides (c.635-154_1587delins30) of the ABCG5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ABCG5-related conditions. Loss-of-function variants in ABCG5 are known to be pathogenic (PMID: 11138003, 25665839). 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.

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