Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000232097 | SCV000282078 | likely pathogenic | not provided | 2016-06-16 | criteria provided, single submitter | clinical testing | The c.779delT variant in the PHIP gene has been observed in internal GeneDx whole exome sequencing data in association with developmental delay and dysmorphic features. The c.779delT variant causes a frameshift starting with codon Leucine 260, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Leu260TrpfsX48. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.779delT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.779delT variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
OMIM | RCV000656344 | SCV000778317 | pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2019-12-02 | no assertion criteria provided | literature only |