ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003004599 SCV003715051 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.212A>G (p.D71G) alteration is located in exon 2 (coding exon 2) of the ELP2 gene. This alteration results from a A to G substitution at nucleotide position 212, causing the aspartic acid (D) at amino acid position 71 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143568 SCV003831898 uncertain significance Intellectual disability, autosomal recessive 58 2020-03-29 criteria provided, single submitter clinical testing
GeneDx RCV004786866 SCV005402078 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.