ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3209A>G (p.Asn1070Ser)

gnomAD frequency: 0.00003  dbSNP: rs368569393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988135 SCV001137734 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988135 SCV001408101 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1070 of the DOCK8 protein (p.Asn1070Ser). This variant is present in population databases (rs368569393, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 802453). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002549703 SCV003752411 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.3209A>G (p.N1070S) alteration is located in exon 26 (coding exon 26) of the DOCK8 gene. This alteration results from a A to G substitution at nucleotide position 3209, causing the asparagine (N) at amino acid position 1070 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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