ClinVar Miner

Submissions for variant NC_000012.12:g.21766002TTC[1]

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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 RCV003083533 SCV003461048 uncertain significance Brugada syndrome 2021-12-24 criteria provided, single submitter clinical testing This variant, c.995_997del, results in the deletion of 1 amino acid(s) of the KCNJ8 protein (p.Glu332del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746995714, gnomAD 0.004%). This variant has been observed in individual(s) with sudden infant death syndrome (PMID: 21836131). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects KCNJ8 function (PMID: 21836131). 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.

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