ClinVar Miner

Submissions for variant NC_000012.11:g.(?_103246573)_(103271348_?)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 RCV001949223 SCV002242492 pathogenic Phenylketonuria 2021-12-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with phenylketonuria (PMID: 18985011). This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 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).

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