ClinVar Miner

Submissions for variant NC_000012.11:g.(?_103306549)_(103306696_?)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 RCV004578358 SCV005067068 pathogenic Phenylketonuria 2023-04-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the PAH gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PAH protein in which other variant(s) (p.Leu48Ser) have been determined to be pathogenic (PMID: 1679030, 9399896, 23430547, 23500595). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PAH-related conditions.

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