ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2174G>A (p.Arg725Gln)

gnomAD frequency: 0.00004  dbSNP: rs762292619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898478 SCV002159676 likely benign not provided 2021-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041516 SCV004928069 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.2174G>A (p.R725Q) alteration is located in exon 19 (coding exon 19) of the CLCN2 gene. This alteration results from a G to A substitution at nucleotide position 2174, causing the arginine (R) at amino acid position 725 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 RCV005038456 SCV005665025 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-01-10 criteria provided, single submitter clinical testing

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