ClinVar Miner

Submissions for variant NC_000022.11:g.(?_18906375)_(18986158_?)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 RCV000707793 SCV000836903 pathogenic Proline dehydrogenase deficiency 2018-05-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PRODH gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole-gene deletions of PRODH alone have not been reported in the literature. However, deletions of PRODH plus additional genes have been reported as part of 22q11 deletion syndrome (PMID: 19736351, 26978485). Loss-of-function variants in PRODH are known to be pathogenic (PMID: 12525555, 15662599). For these reasons, this variant has been classified as Pathogenic.

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