Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439452 | SCV000512850 | uncertain significance | not provided | 2017-01-06 | criteria provided, single submitter | clinical testing | The L1330V variant in the DOCK8 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, the variant has been observed in the homozygous state in one unaffected individual at GeneDx. The NHLBI Exome Sequencing Project reports L1330V was observed in 10/4406 (0.23%) alleles from individuals of African-American background, and the 1000 Genomes Project Consortium reports it was observed in 2/1322 (0.15%) alleles from individuals of African background, indicating it may be a rare variant in these populations. The L1330V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV003595959 | SCV001060712 | benign | Autosomal recessive hyper-IgE syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001087724 | SCV001527706 | uncertain significance | Combined immunodeficiency due to DOCK8 deficiency | 2018-03-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003912613 | SCV004737371 | likely benign | DOCK8-related disorder | 2024-02-10 | criteria provided, single submitter | 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). |
Centre de Biologie Pathologie Génétique, |
RCV001251750 | SCV001427491 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |