Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003409369 | SCV004109325 | uncertain significance | DOCK6-related condition | 2023-07-17 | criteria provided, single submitter | clinical testing | The DOCK6 c.3154G>A variant is predicted to result in the amino acid substitution p.Glu1052Lys. This variant was reported in the homozygous state in an individual with Adams-Oliver syndrome (Sukalo et al. 2015. PubMed ID: 25824905). This variant is reported in 0.0062% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-11333497-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
OMIM | RCV000239496 | SCV000297837 | pathogenic | Adams-Oliver syndrome 2 | 2023-11-01 | no assertion criteria provided | literature only |