ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4163T>C (p.Met1388Thr)

gnomAD frequency: 0.00001  dbSNP: rs765831486
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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 RCV001351257 SCV001545708 uncertain significance DOCK2 deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1388 of the DOCK2 protein (p.Met1388Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs765831486, ExAC 0.03%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002548476 SCV003760483 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.4163T>C (p.M1388T) alteration is located in exon 41 (coding exon 41) of the DOCK2 gene. This alteration results from a T to C substitution at nucleotide position 4163, causing the methionine (M) at amino acid position 1388 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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