ClinVar Miner

Submissions for variant NC_000015.10:g.(?_38299363)_(38324819_?)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 RCV001032104 SCV001195411 pathogenic Legius syndrome 2019-06-15 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 2-4 of the SPRED1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SPRED1-related conditions. Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776). For these reasons, this variant has been classified as Pathogenic.

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