ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)

gnomAD frequency: 0.00001  dbSNP: rs1372592100
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
Invitae RCV001059331 SCV001223954 uncertain significance Intellectual disability, X-linked 1 2022-10-18 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt IQSEC2 protein function. ClinVar contains an entry for this variant (Variation ID: 854310). This variant has not been reported in the literature in individuals affected with IQSEC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 140 of the IQSEC2 protein (p.Pro140Leu).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001836941 SCV002011153 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001836941 SCV002097411 likely benign not provided 2022-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002554417 SCV003584130 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.419C>T (p.P140L) alteration is located in exon 1 (coding exon 1) of the IQSEC2 gene. This alteration results from a C to T substitution at nucleotide position 419, causing the proline (P) at amino acid position 140 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.