ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2057C>T (p.Ala686Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004444247 SCV004928068 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.2057C>T (p.A686V) alteration is located in exon 18 (coding exon 18) of the CLCN2 gene. This alteration results from a C to T substitution at nucleotide position 2057, causing the alanine (A) at amino acid position 686 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038672 SCV005665030 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-05-07 criteria provided, single submitter clinical testing

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