ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1460C>T (p.Thr487Met)

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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 RCV004444240 SCV004928058 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.1460C>T (p.T487M) alteration is located in exon 14 (coding exon 14) of the CLCN2 gene. This alteration results from a C to T substitution at nucleotide position 1460, causing the threonine (T) at amino acid position 487 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038669 SCV005665065 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-06-17 criteria provided, single submitter clinical testing

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