ClinVar Miner

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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