ClinVar Miner

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

dbSNP: rs869312847
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000210365 SCV000266484 pathogenic not provided 2024-12-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27003583, 33057194, 35982159, 34704275)
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.
GenomeConnect - Simons Searchlight RCV001265396 SCV001443521 likely pathogenic Intellectual disability, autosomal dominant 43 2016-05-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-05-04 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-06-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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