Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003983867 | SCV004800263 | uncertain significance | PUF60-related condition | 2024-02-16 | criteria provided, single submitter | clinical testing | The PUF60 c.1673_1674delCT variant is predicted to result in a frameshift and premature protein termination (p.Ser558Cysfs*21). This variant is located within the second to last codon of the transcript and therefore causes a protein extension of 21 amino acids and is not expected to undergo nonsense mediated decay. This variant has been reported as de novo in an individual with mild symptoms of Verheij syndrome (Yamada et al 2020. PubMed ID: 32851780). This same report confirmed that the transcript escaped nonsense mediated decay. This variant has not been reported in a large population database, indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Department of Genetics, |
RCV001264671 | SCV001442870 | likely pathogenic | Neurodevelopmental abnormality | 2020-04-03 | no assertion criteria provided | clinical testing |