ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)

gnomAD frequency: 0.00006  dbSNP: rs138573287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002238609 SCV002511682 uncertain significance not specified 2022-04-12 criteria provided, single submitter clinical testing Variant summary: CLCN2 c.2156C>T (p.Ser719Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 249850 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2156C>T has been reported in the literature in a proband affected with childhood absence epilepsy who inherited it from an apparently healthy carrier mother. EEG studies performed on the mother showed bursts of phantom sharps and waves during hyperventilation, so the possibility of a subclinical presentation in the mother cannot be excluded based on the reported findings (Combi_2009). This report has since been cited by others (Wei_2017). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002487039 SCV002776681 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2022-05-18 criteria provided, single submitter clinical testing

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