ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4060T>A (p.Ser1354Thr)

dbSNP: rs550928168
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823942 SCV000964817 uncertain significance DOCK2 deficiency 2018-08-11 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1354 of the DOCK2 protein (p.Ser1354Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DOCK2-related disease. 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 threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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