Description
Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect by causing abnormal channel function (Wehrens et al., 2003; Jiang et al., 2005; Suetomi et al., 2011); Is located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 12954; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27114410, 18092949, 16843546, 30403697, 31112425, 30640888, 19226252, 12837242, 21768539, 11208676, 15544015, 24025405, 19926015, 26114861, 12919952, 29427818, 28202948, 12093772, 29434162, 29453248, 29453246, 30975432, 30302938, 31995186, 23595086, 16239587, 26582918)
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |