ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser)

gnomAD frequency: 0.00002  dbSNP: rs184790106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925333 SCV002173745 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 52 of the CLCN2 protein (p.Pro52Ser). This variant is present in population databases (rs184790106, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CLCN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1403342). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CLCN2 protein function with a negative predictive value of 80%. 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 RCV002482798 SCV002780820 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-11-01 criteria provided, single submitter clinical testing

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