ClinVar Miner

Submissions for variant NM_002249.6(KCNN3):c.1259G>A (p.Arg420Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314340 SCV004013591 uncertain significance Zimmermann-laband syndrome 3 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.61; 3Cnet: 0.96). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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