ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.78del (p.Asp27fs)

dbSNP: rs2499542595
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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 RCV003496258 SCV004366006 pathogenic Phenylketonuria 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp27Thrfs*11) in the PAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAH-related conditions. For these reasons, this variant has been classified as Pathogenic.

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