Submissions for variant NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu) (rs1555988417)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000509014	SCV000267837	pathogenic	not provided	2018-03-12	criteria provided, single submitter	clinical testing	The P209L variant in the HNRNPH2 gene has been observed in internal GeneDx whole exome sequencing data in association with intellectual disability, hypotonia, seizures, and microcephaly. The P209L 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 P209L variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts the P209L variant is probably damaging to the protein structure/function. Missense variants in a nearby residue (R206W, R206Q) have been observed in internal GeneDx whole exome sequencing data in association with intellectual disability, dysmorphic features, hypotonia, and autistic features, supporting the functional importance of this region of the protein. We interpret P209L as a pathogenic variant.
OMIM	RCV000509057	SCV000322728	pathogenic	Mental retardation, X-linked, syndromic, Bain type	2016-10-07	no assertion criteria provided	literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.