Submissions for variant NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del)

dbSNP: rs1556019105

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)	RCV000505186	SCV005044901	uncertain significance	Borjeson-Forssman-Lehmann syndrome	2024-03-14	criteria provided, single submitter	research	Reported as a de novo variant with confirmed parentage in a patient in the published literature; however, clinical information was not provided (PMID: 35599849). Not observed at significant frequency in large population cohorts (gnomAD). In-frame deletion of 1 amino acids in a non-repeat region. In silico analysis supports a deleterious effect on protein structure/function.
GeneDx	RCV004722845	SCV005331962	uncertain significance	not provided	2024-03-13	criteria provided, single submitter	clinical testing	Reported as a de novo variant with confirmed parentage in a patient in the published literature; however, clinical information was not provided (PMID: 35599849); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35599849)
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000505186	SCV000599275	likely pathogenic	Borjeson-Forssman-Lehmann syndrome	2016-03-02	no assertion criteria provided	clinical testing