ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4608C>A (p.Asp1536Glu)

dbSNP: rs766582922
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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 RCV001047820 SCV001211802 uncertain significance DOCK2 deficiency 2022-10-13 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 844863). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs766582922, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1536 of the DOCK2 protein (p.Asp1536Glu).
GenomeConnect - Invitae Patient Insights Network RCV001047820 SCV001749834 not provided DOCK2 deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-03-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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