ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5153C>T (p.Ser1718Leu)

gnomAD frequency: 0.00005  dbSNP: rs760040908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341102 SCV001534950 uncertain significance DOCK2 deficiency 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1718 of the DOCK2 protein (p.Ser1718Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs760040908, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003284226 SCV003985268 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.5153C>T (p.S1718L) alteration is located in exon 49 (coding exon 49) of the DOCK2 gene. This alteration results from a C to T substitution at nucleotide position 5153, causing the serine (S) at amino acid position 1718 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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