ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) (rs199475628)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666206 SCV000790459 uncertain significance Phenylketonuria 2017-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000666206 SCV000914561 uncertain significance Phenylketonuria 2017-04-28 criteria provided, single submitter clinical testing The PAH c.131_133delAAG (p.Glu44del) variant is an in-frame deletion variant that has been reported in two studies, where it was found in a total of three cases of confirmed or suspected phenylalanine hydroxylase (PAH) deficiency, including in a compound heterozygous state in two and in a heterozygous state in one (Liu et al. 2015; Tyfield et al. 1997). The first compound heterozygote had a confirmed diagnosis of PAH deficiency and carried the p.Glu44del variant in trans with a known pathogenic missense variant. The second compound heterozygote was a fetus with no confirmed diagnosis and carried the p.Glu44del variant in trans with the same pathogenic missense variant as the first individual (Liu 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 despite good sequence coverage of the region. Based on the limited evidence, the p.Glu44del variant is classified as a variant of uncertain significance but suspicious for pathogenicity 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 RCV000088833 SCV000119417 not provided not provided no assertion provided not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088833 SCV000119425 not provided not provided no assertion provided not provided

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