ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.980T>C (p.Ile327Thr)

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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 RCV002995771 SCV003295666 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 327 of the CLCN2 protein (p.Ile327Thr). This variant is present in population databases (rs142192594, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of CLCN2-related conditions (PMID: 28337550). ClinVar contains an entry for this variant (Variation ID: 2082019). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV005034558 SCV005665085 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-02-13 criteria provided, single submitter clinical testing

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