ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4204-3C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002933071 SCV003262563 uncertain significance not provided 2022-03-27 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the DOCK6 gene. It does not directly change the encoded amino acid sequence of the DOCK6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370375778, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DOCK6-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
PreventionGenetics, part of Exact Sciences RCV003926539 SCV004742948 likely benign DOCK6-related disorder 2019-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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