ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) (rs869312847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000210365 SCV000266484 likely pathogenic not provided 2016-03-22 criteria provided, single submitter clinical testing The D397Y variant in the HIVEP2 gene has been observed in internal GeneDx whole exome sequencing data in association with developmental delay, microcephaly, failure to thrive and hypotonia. The D397Y variant was not observed in approximately 6,000 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 D397Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret D397Y as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000509366 SCV000606906 not provided HIVEP2-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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