ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.450dup (p.Asp151fs)

dbSNP: rs2499637040
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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 RCV003031124 SCV003316866 pathogenic Phenylketonuria 2023-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp151Argfs*13) 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 premature translational stop signal has been observed in individual(s) with clinical features of hyperphenylalaninemia (PMID: 32668217). ClinVar contains an entry for this variant (Variation ID: 2098799). For these reasons, this variant has been classified as Pathogenic.

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