Total submissions: 2
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 |