Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000088789 | SCV000330982 | likely pathogenic | not provided | 2016-04-29 | criteria provided, single submitter | clinical testing | |
Unidade de Bioquimica Genetica, |
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. |
Gene |
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 | ||
De |
RCV000088789 | SCV000119376 | not provided | not provided | no assertion provided | not provided |