ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.3646G>A (p.Val1216Ile)

gnomAD frequency: 0.00005  dbSNP: rs755704781
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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 RCV000707665 SCV000836770 uncertain significance Developmental and epileptic encephalopathy, 23 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1216 of the DOCK7 protein (p.Val1216Ile). This variant is present in population databases (rs755704781, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 583352). 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.
GeneDx RCV003228983 SCV003925818 uncertain significance not provided 2022-11-17 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
Genome-Nilou Lab RCV000707665 SCV004178433 uncertain significance Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972907 SCV005575464 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.3553G>A (p.V1185I) alteration is located in exon 29 (coding exon 29) of the DOCK7 gene. This alteration results from a G to A substitution at nucleotide position 3553, causing the valine (V) at amino acid position 1185 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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