ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)

dbSNP: rs567261857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410471 SCV000487095 likely pathogenic Phenylketonuria 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV000410471 SCV000827177 pathogenic Phenylketonuria 2023-07-14 criteria provided, single submitter clinical testing 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.Ala447Asp) have been determined to be pathogenic (PMID: 8659548, 9540801, 23430918). 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 sequence change creates a premature translational stop signal (p.Gln428*) in the PAH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the PAH protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hyperphenylalaninemia (PMID: 34828281). ClinVar contains an entry for this variant (Variation ID: 371497).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759177 SCV000888343 likely pathogenic not provided 2018-04-26 criteria provided, single submitter clinical testing

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