Submissions for variant NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) (rs886039764)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000509012	SCV000267839	pathogenic	not provided	2018-07-31	criteria provided, single submitter	clinical testing	The R206Q variant in the HNRNPH2 gene has been observed in internal GeneDx whole exome sequencing data in association with hypotonia and developmental delay. The R206Q 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 R206Q variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. Missense variants in the same residue (R206W) and in a nearby residue (P209L) have been observed in internal GeneDx whole exome sequencing data in association with intellectual disability, dysmorphic features, hypotonia, seizures, microcephaly, and autistic features, supporting the functional importance of this region of the protein. We interpret R206Q as a pathogenic variant.
OMIM	RCV000256185	SCV000322727	pathogenic	Mental retardation, X-linked, syndromic, Bain type	2016-10-07	no assertion criteria provided	literature only

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