Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001269320 | SCV001448671 | likely pathogenic | Phenylketonuria | 2020-08-27 | reviewed by expert panel | curation | The c.970-2A>C variant in PAH is a canonical splice-site variant predicted to lead to skipping of exon 10 (PVS1_Strong). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It is reported in ClinVar (variant ID 102918), without a classification. It has been previously reported (PMID: 7866411) in one Polish proband with classic PKU (as ascertained by abnormal blood Phe levels; BH4 deficiency does not appear to have been formally excluded) (PP4), who was homozygous for the variant (0.5 points; PM3_Supporting). Classification: Likely Pathogenic Supporting Criteria: PVS1_Strong; PM2; PM3_Supporting; PP4 |
De |
RCV000089184 | SCV000119799 | not provided | not provided | no assertion provided | not provided |