ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5002C>G (p.Leu1668Val)

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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 RCV002624270 SCV003514045 uncertain significance DOCK2 deficiency 2022-01-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1668 of the DOCK2 protein (p.Leu1668Val). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002624271 SCV003724059 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.5002C>G (p.L1668V) alteration is located in exon 49 (coding exon 49) of the DOCK2 gene. This alteration results from a C to G substitution at nucleotide position 5002, causing the leucine (L) at amino acid position 1668 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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