ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1856-3C>T

gnomAD frequency: 0.00044  dbSNP: rs371193424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998173 SCV001154108 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing CLCN2: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000998173 SCV002144740 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the CLCN2 gene. It does not directly change the encoded amino acid sequence of the CLCN2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs371193424, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with epilepsy (PMID: 15505175, 36435927). ClinVar contains an entry for this variant (Variation ID: 217773). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005031768 SCV005665042 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-03-12 criteria provided, single submitter clinical testing
GeneReviews RCV000201822 SCV000256566 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only

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