ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)

dbSNP: rs797044970
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
CeGaT Center for Human Genetics Tuebingen RCV002510811 SCV002821023 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing
Invitae RCV002510811 SCV004291792 likely pathogenic not provided 2023-04-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects KCNQ4 function (PMID: 31995783, 34622280). 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 KCNQ4 protein function. ClinVar contains an entry for this variant (Variation ID: 208370). This missense change has been observed in individual(s) with autosomal recessive deafness (PMID: 23717403, 31028865). It has also been observed to segregate with disease in related individuals. This variant has been reported in individual(s) with autosomal dominant deafness (PMID: 31028865); however, the role of the variant in this condition is currently unclear. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 291 of the KCNQ4 protein (p.Pro291Leu).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000655881 SCV000777810 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 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.