ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.737del (p.Ala246fs)

dbSNP: rs199475666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543254 SCV000629212 pathogenic Phenylketonuria 2024-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala246Valfs*95) 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 present in population databases (rs199475666, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with hyperphenylalaninemia (PMID: 10679941). ClinVar contains an entry for this variant (Variation ID: 102814). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000543254 SCV004209705 pathogenic Phenylketonuria 2023-02-13 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089069 SCV000119675 not provided not provided no assertion provided not provided

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