ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5221_5226del (p.Ile1741_Pro1742del)

dbSNP: rs1561912393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692328 SCV000820144 uncertain significance DOCK2 deficiency 2023-01-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5221_5226del, results in the deletion of 2 amino acid(s) of the DOCK2 protein (p.Ile1741_Pro1742del), but otherwise preserves the integrity of the reading frame. ClinVar contains an entry for this variant (Variation ID: 571239). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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