ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.3250G>A (p.Val1084Ile)

gnomAD frequency: 0.00005  dbSNP: rs758986234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204278 SCV001375477 uncertain significance Developmental and epileptic encephalopathy, 23 2023-04-01 criteria provided, single submitter clinical testing 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 DOCK7 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 935638). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. This variant is present in population databases (rs758986234, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1084 of the DOCK7 protein (p.Val1084Ile).
Ambry Genetics RCV003346360 SCV004067708 uncertain significance Inborn genetic diseases 2023-07-05 criteria provided, single submitter clinical testing The c.3157G>A (p.V1053I) alteration is located in exon 26 (coding exon 26) of the DOCK7 gene. This alteration results from a G to A substitution at nucleotide position 3157, causing the valine (V) at amino acid position 1053 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001204278 SCV004178440 uncertain significance Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV004774292 SCV005386539 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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