ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)

gnomAD frequency: 0.00001  dbSNP: rs1293789661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002481647 SCV002791654 pathogenic Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-09-20 criteria provided, single submitter clinical testing
Ute Scholl Laboratory, Heinrich Heine University Duesseldorf RCV000516109 SCV000606833 pathogenic Familial hyperaldosteronism type II 2017-09-25 no assertion criteria provided research Four independent occurrences of CLCN2 p.Arg172Gln, significant burden of rare variants in CLCN2 in early-onset primary aldosteronism (two de novo), localization of CLCN2 in adrenal zona glomerulosa, electrophysiologic impact of mutant channels and effect on aldosterone synthase expression
OMIM RCV000516109 SCV000803370 pathogenic Familial hyperaldosteronism type II 2021-05-06 no assertion criteria provided literature only

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