ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3140T>G (p.Phe1047Cys)

gnomAD frequency: 0.00019  dbSNP: rs145444170
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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 RCV000688196 SCV000815798 uncertain significance DOCK2 deficiency 2022-11-03 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 567979). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs145444170, gnomAD 0.04%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1047 of the DOCK2 protein (p.Phe1047Cys).
Ambry Genetics RCV003278994 SCV003956589 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.3140T>G (p.F1047C) alteration is located in exon 31 (coding exon 31) of the DOCK2 gene. This alteration results from a T to G substitution at nucleotide position 3140, causing the phenylalanine (F) at amino acid position 1047 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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