ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)

dbSNP: rs28999112
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851957 SCV002243715 pathogenic Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2022-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ACTG1 function (PMID: 19419963). 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 ACTG1 protein function. ClinVar contains an entry for this variant (Variation ID: 18319). This missense change has been observed in individual(s) with deafness (PMID: 14684684). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 278 of the ACTG1 protein (p.Thr278Ile).
OMIM RCV000019984 SCV000040282 pathogenic Autosomal dominant nonsyndromic hearing loss 20 2003-12-01 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.