ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.518G>A (p.Arg173Gln)

gnomAD frequency: 0.00053  dbSNP: rs373956807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001880523 SCV002120875 uncertain significance not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 173 of the DOCK6 protein (p.Arg173Gln). This variant is present in population databases (rs373956807, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DOCK6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1356814). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DOCK6 protein function with a negative predictive value of 80%. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252710 SCV002523438 likely benign See cases 2020-01-03 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BP4
CeGaT Center for Human Genetics Tuebingen RCV001880523 SCV004137856 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing DOCK6: BP4

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