ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5294C>T (p.Ala1765Val)

gnomAD frequency: 0.00007  dbSNP: rs141274816
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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 RCV001050690 SCV001214810 uncertain significance DOCK2 deficiency 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1765 of the DOCK2 protein (p.Ala1765Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 847193). 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 RCV002553231 SCV003740338 uncertain significance Inborn genetic diseases 2022-07-07 criteria provided, single submitter clinical testing The c.5294C>T (p.A1765V) alteration is located in exon 51 (coding exon 51) of the DOCK2 gene. This alteration results from a C to T substitution at nucleotide position 5294, causing the alanine (A) at amino acid position 1765 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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