ClinVar Miner

Submissions for variant NC_000012.12:g.(?_102854491)_(102855289_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632884 SCV000754089 pathogenic Phenylketonuria 2017-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 6 of the PAH gene, including the exon 6-intron 6 boundary (c.553_706+646delinsTACTTACCTAT). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar variant has been reported in the literature in individuals affected with phenylketonuria and hyperphenylalaninemia (PMID: 24304607). Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). For these reasons, this variant has been classified as Pathogenic.

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