ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)

gnomAD frequency: 0.00001  dbSNP: rs372751467
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593271 SCV000704805 likely pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761231 SCV000891187 likely pathogenic Adams-Oliver syndrome 1 2018-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420034 SCV004113948 likely pathogenic DOCK6-related disorder 2023-02-21 criteria provided, single submitter clinical testing The DOCK6 c.3562C>T variant is predicted to result in premature protein termination (p.Gln1188*). To our knowledge, this variant has not been reported in a patient with a DOCK6 related disorder. This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-11328056-G-A). Nonsense variants in DOCK6 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000593271 SCV004677677 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1188*) in the DOCK6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK6 are known to be pathogenic (PMID: 21820096, 25824905). This variant is present in population databases (rs372751467, gnomAD 0.006%). 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: 499360). For these reasons, this variant has been classified as Pathogenic.

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