ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) (rs1085307845)

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Total submissions: 2
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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 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM 2019-01-03 criteria provided, single submitter clinical testing

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