ClinVar Miner

Submissions for variant NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr)

dbSNP: rs2101782564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV001374389 SCV001554652 pathogenic Zimmermann-laband syndrome 3 2020-11-18 criteria provided, single submitter clinical testing We identified a de novo variant Ala536Thr in monozygotic twins who were presented with clinical symptoms of Zimmerman-Laband syndrome. There was no evidence for mosaicism in healthy family members. The variant is not present in population databases (GnomAD, ExAC, 1000G). The locus is highly conserved in evolution: PhyloP 5,77; PhasCons 1. In silico predictors - SIFT, DANN, and Mutation Taster predicted a deleterious effect on protein structure. According to ACMG criteria, we classified the variant as pathogenic.

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