ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.400C>T (p.Gln134Ter) (rs199475680)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169559 SCV000221054 likely pathogenic Phenylketonuria 2015-01-21 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169559 SCV000919915 likely pathogenic Phenylketonuria 2018-07-27 criteria provided, single submitter clinical testing Variant summary: PAH c.400C>T (p.Gln134X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Arg176X and p.Tyr206X). The variant was absent in 246228 control chromosomes (gnomAD). The variant, c.400C>T, has been reported in the literature in at least one individual affected with Phenylalanine Hydroxylase Deficiency (Phenylketonuria)(Daniele_2006). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088912 SCV000119510 not provided not provided no assertion provided not provided

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