ClinVar Miner

Submissions for variant NC_000003.11:g.(?_53155766)_(53156657_?)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 RCV003122982 SCV003796211 uncertain significance RFT1-congenital disorder of glycosylation 2022-05-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant results in the deletion of exon 4 and part of exon 5 (c.267-78_507del) of the RFT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RFT1 cause disease. This variant has not been reported in the literature in individuals affected with RFT1-related conditions.

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