ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys)

dbSNP: rs774877657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003409369 SCV004109325 uncertain significance DOCK6-related condition 2023-07-17 criteria provided, single submitter clinical testing The DOCK6 c.3154G>A variant is predicted to result in the amino acid substitution p.Glu1052Lys. This variant was reported in the homozygous state in an individual with Adams-Oliver syndrome (Sukalo et al. 2015. PubMed ID: 25824905). This variant is reported in 0.0062% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-11333497-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000239496 SCV000297837 pathogenic Adams-Oliver syndrome 2 2023-11-01 no assertion criteria provided literature only

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