ClinVar Miner

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

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Total submissions: 2
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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

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