Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics Laboratory, |
RCV004556015 | SCV005045170 | likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | The PHIP c.1137-2A>G variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant occurs within the canonical splice acceptor site, which is predicted to cause skipping of the exon, leading to an in-frame transcript missing 32 amino acids in a WD repeat domain. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic. |