ClinVar Miner

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

gnomAD frequency: 0.00011  dbSNP: rs35395501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 condition 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.

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