ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1199+17G>A

gnomAD frequency: 0.00001  dbSNP: rs62508613
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000088789 SCV000330982 likely pathogenic not provided 2016-04-29 criteria provided, single submitter clinical testing
Unidade de Bioquimica Genetica, Centro Hospitalar do Porto RCV000316500 SCV000616624 likely pathogenic Phenylketonuria 2017-11-10 criteria provided, single submitter clinical testing The variant was observed in four patients, two with a diagnosis of phenylketonuria (PKU) and the other two with a diagnosis of mild hyperphenylalaninemia (MHP). In the two PKU patients, the variant was found in compound heterozygosity with IVS10-11G>A (c.1066-11G>A), in intron 10, and c.250G>T (p.D84Y), in exon 3. Meanwhile, in the two MHP patients, it was found with IVS2+5G>C (c.168+5G>C), in intron 2, and c.754C>T (p.R252W), in exon 7. In silico analysis in Human Splicing Finder showed that it activates an intronic cryptic acceptor site, which potentially alters splicing.
Invitae RCV000316500 SCV000629176 pathogenic Phenylketonuria 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with altered splicing resulting in skipping of exon 11 (PMID: 29684050). ClinVar contains an entry for this variant (Variation ID: 102555). This variant is also known as IVS11+17G>A. This variant has been observed in individual(s) with hyperphenylalaninemia (PMID: 11139255, 30829006; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 of the PAH gene. It does not directly change the encoded amino acid sequence of the PAH protein.
GeneDx RCV000088789 SCV000709881 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11139255, 31589614, 32668217, 30829006, 29684050)
Counsyl RCV000316500 SCV000799396 likely pathogenic Phenylketonuria 2018-04-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000316500 SCV001163712 pathogenic Phenylketonuria criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088789 SCV000119376 not provided not provided no assertion provided not provided

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