ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2858C>T (p.Ser953Phe)

gnomAD frequency: 0.00011  dbSNP: rs35395501
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653071 SCV000774945 uncertain significance DOCK2 deficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 953 of the DOCK2 protein (p.Ser953Phe). This variant is present in population databases (rs35395501, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 542611). 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.
PreventionGenetics, part of Exact Sciences RCV003411549 SCV004106485 uncertain significance DOCK2-related disorder 2022-11-02 criteria provided, single submitter clinical testing The DOCK2 c.2858C>T variant is predicted to result in the amino acid substitution p.Ser953Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.091% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-169410130-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004025895 SCV004860254 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.2858C>T (p.S953F) alteration is located in exon 28 (coding exon 28) of the DOCK2 gene. This alteration results from a C to T substitution at nucleotide position 2858, causing the serine (S) at amino acid position 953 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692049 SCV005188722 uncertain significance not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.