ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys)

gnomAD frequency: 0.00001  dbSNP: rs202054691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796106 SCV000935603 uncertain significance Developmental and epileptic encephalopathy, 23 2020-07-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1181 of the DOCK7 protein (p.Arg1181Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs202054691, ExAC 0.002%). This variant has not been reported in the literature in individuals with DOCK7-related disease. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV000796106 SCV001738389 uncertain significance Developmental and epileptic encephalopathy, 23 2021-03-10 criteria provided, single submitter clinical testing The c.3448C>T variant is not present in publicly available population databases like 1000 Genomes or EVS. The heterozygous state of the variant is present in ExAC, gnomAD and dbSNP at a very low frequency. The variant is not present in Indian Exome Database [Kausthubham et al. Hum Mutat, 2021] and in our in-house exome database. The variant has not been previously reported to ClinVar, HGMD and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-3, MutationTaster2, CADD etc. predicted this variant to be likely disease causing. There are no proven functional studies reported to prove its pathogenicity. Due to lack of enough evidence the variant has been classified as uncertain significance.
Genome-Nilou Lab RCV000796106 SCV004178435 uncertain significance Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing

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