ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.815T>C (p.Val272Ala)

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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 RCV003309675 SCV003994824 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.815T>C (p.V272A) alteration is located in exon 8 (coding exon 8) of the CLCN2 gene. This alteration results from a T to C substitution at nucleotide position 815, causing the valine (V) at amino acid position 272 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036729 SCV005665093 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-02-18 criteria provided, single submitter clinical testing

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