ClinVar Miner

Submissions for variant NC_000007.13:g.(?_42000470)_(42005117_?)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 RCV003122103 SCV003790786 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-02-14 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 (c.3554_*3458delins366) of the GLI3 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with GLI3-related conditions. This variant disrupts a region of the GLI3 protein in which other variant(s) (p.Tyr1254*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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