Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000766185 | SCV000996449 | likely pathogenic | Turnpenny-fry syndrome | 2019-07-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Turnpenny-Fry syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM5, PM6. |
| Ambry Genetics | RCV002536593 | SCV003549275 | likely pathogenic | Inborn genetic diseases | 2021-07-12 | criteria provided, single submitter | clinical testing | The c.193C>T (p.P65S) alteration is located in exon 4 (coding exon 2) of the PCGF2 gene. This alteration results from a C to T substitution at nucleotide position 193, causing the proline (P) at amino acid position 65 to be replaced by a serine (S). Based on data from the Genome Aggregation Database (gnomAD), the PCGF2 c.193C>T alteration was not observed, with coverage at this position. This alteration was observed de novo in twin siblings with dysmorphic features, kyphosis, scoliosis, patent ductus arteriosus, moderate intellectual disability, developmental delay, ADHD, mild diplegia, and abnormal MRI of abnormal white matter and bilateral extensive polymicrogyria. Another alteration at the same codon, p.P65L (c.194C>T), has been described to occur de novo in multiple individuals with a recognizable facial gestalt, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities (Turnpenny, 2018). This amino acid position is highly conserved in available vertebrate species. The p.P65S alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic. |
| OMIM | RCV000766185 | SCV000897616 | pathogenic | Turnpenny-fry syndrome | 2019-03-28 | no assertion criteria provided | literature only |