ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) (rs62517163)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306209 SCV000375563 likely pathogenic Phenylketonuria 2017-04-28 criteria provided, single submitter clinical testing The PAH c.1114A>T (p.Thr372Ser) missense variant has been reported in three studies in which it is found in a total of six Turkish patients with hyperphenylalanemia, a milder form of phenylalanine hydroxylase deficiency, in a compound heterozygous state (van der Sijs-Bos et al. 1996; Yilmaz et al. 2000; Ãœnal et al. 2015). Control data are unavailable for this variant which is not found in the 1000 Genomes Project, the Exome Sequencing Project or the Exome Aggregation Consortium. Based on the evidence, the p.Thr372Ser variant is classified as likely pathogenic for phenylalanine hydroxylase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088761 SCV000119345 not provided not provided no assertion provided not provided
Counsyl RCV000306209 SCV000793301 likely pathogenic Phenylketonuria 2017-08-10 no assertion criteria provided clinical testing

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