ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)

gnomAD frequency: 0.00008  dbSNP: rs141605519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951898 SCV001098349 likely benign not provided 2022-08-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489306 SCV002798834 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169468 SCV003874348 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.1141C>G (p.P381A) alteration is located in exon 11 (coding exon 11) of the CLCN2 gene. This alteration results from a C to G substitution at nucleotide position 1141, causing the proline (P) at amino acid position 381 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
School Of Forensic, Xinxiang Medical University RCV004720285 SCV004805641 likely pathogenic Epilepsy, idiopathic generalized, susceptibility to, 11 no assertion criteria provided research

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