ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)

gnomAD frequency: 0.00007  dbSNP: rs375401465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329866 SCV001521415 uncertain significance Familial hyperaldosteronism type II 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003246888 SCV003942095 uncertain significance Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing The c.1934G>A (p.R645Q) alteration is located in exon 17 (coding exon 17) of the CLCN2 gene. This alteration results from a G to A substitution at nucleotide position 1934, causing the arginine (R) at amino acid position 645 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038084 SCV005665037 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-05-09 criteria provided, single submitter clinical testing

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