Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001978238 | SCV002271118 | uncertain significance | not provided | 2022-10-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1055 of the DOCK6 protein (p.Val1055Met). This variant is present in population databases (rs202209921, gnomAD 0.3%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with congenital heart disease (PMID: 30293987). ClinVar contains an entry for this variant (Variation ID: 1489179). 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 DOCK6 protein function. 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. |
Ambry Genetics | RCV002592597 | SCV003677011 | likely benign | Inborn genetic diseases | 2022-01-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV001978238 | SCV004137833 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001978238 | SCV005192589 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003923402 | SCV004741590 | likely benign | DOCK6-related disorder | 2022-04-20 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |