Submissions for variant NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)

dbSNP: rs1085307845

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000490131	SCV000577463	likely pathogenic	not provided	2017-03-29	criteria provided, single submitter	clinical testing	The S287Y variant in the PHIP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S287Y variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S287Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The S287Y variant is a strong candidate for a pathogenic variant.
Wendy Chung Laboratory, Columbia University Medical Center	RCV000770903	SCV000899256	likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	2019-01-03	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000490131	SCV001447419	likely pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing