Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001331501 | SCV001523547 | uncertain significance | Branchiootic syndrome 3 | 2019-01-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Invitae | RCV003770837 | SCV004571633 | uncertain significance | Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 | 2023-04-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1030044). 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 SIX1 protein function. This variant has not been reported in the literature in individuals affected with SIX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 207 of the SIX1 protein (p.Glu207Ala). |