ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser)

dbSNP: rs751569402
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623426 SCV000742237 likely pathogenic Inborn genetic diseases 2017-02-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994532 SCV001148126 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260604 SCV001437696 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994532 SCV002160645 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 220 of the DEAF1 protein (p.Gly220Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of DEAF1-related conditions (PMID: 28714951, 31785789, 31981491, 35231114). ClinVar contains an entry for this variant (Variation ID: 521587). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DEAF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000994532 SCV002575619 pathogenic not provided 2022-09-23 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: 28213671, 28940898, 23372760, 26834045, 26048982, 24726472, 24668509, 23020937, 21076407, 22442688, 28714951, 31981491, 31785789)

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.