ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3350G>C (p.Cys1117Ser)

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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 RCV003872222 SCV004683913 uncertain significance DOCK2 deficiency 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1117 of the DOCK2 protein (p.Cys1117Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004621942 SCV005112134 uncertain significance Inborn genetic diseases 2024-06-19 criteria provided, single submitter clinical testing The c.3350G>C (p.C1117S) alteration is located in exon 33 (coding exon 33) of the DOCK2 gene. This alteration results from a G to C substitution at nucleotide position 3350, causing the cysteine (C) at amino acid position 1117 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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