ClinVar Miner

Submissions for variant NC_000012.12:g.(?_102866586)_(102866673_?)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 RCV001033316 SCV001196623 pathogenic Phenylketonuria 2022-10-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the PAH gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). A similar copy number variant has been observed in individual(s) with phenylketonuria or hyperphenylalaninemia (PMID: 12655547, 22513348, 23942198). For these reasons, this variant has been classified as Pathogenic.

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