Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000694988 | SCV000823461 | uncertain significance | Developmental and epileptic encephalopathy, 23 | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1485 of the DOCK7 protein (p.Val1485Ile). This variant is present in population databases (rs746518826, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 573337). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Mayo Clinic Laboratories, |
RCV003480778 | SCV004227859 | uncertain significance | not provided | 2022-02-03 | criteria provided, single submitter | clinical testing | BP4, PM2 |
Ambry Genetics | RCV004025225 | SCV004859227 | uncertain significance | Inborn genetic diseases | 2023-12-22 | criteria provided, single submitter | clinical testing | The c.4387G>A (p.V1463I) alteration is located in exon 35 (coding exon 35) of the DOCK7 gene. This alteration results from a G to A substitution at nucleotide position 4387, causing the valine (V) at amino acid position 1463 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |