ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.617A>G (p.His206Arg) (rs773432002)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210560 SCV000262876 pathogenic Inborn genetic diseases 2013-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000498075 SCV000589770 likely pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing The H271R variant in the ELP2 gene has been reported previously in trans with another ELP2 variant in brothers with intellectual disability (Cohen et al., 2015). The H271R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H271R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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. The H271R variant is reported as pathogenic in ClinVar but additional evidence is not available (ClinVar SCV000262876.2; Landrum et al., 2016]. We interpret H271R as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000509137 SCV000607244 not provided ELP2-Related Disorders 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.
OMIM RCV000415587 SCV000493999 pathogenic Mental retardation, autosomal recessive 58 2016-12-23 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.