ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met)

gnomAD frequency: 0.00001  dbSNP: rs483352716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000087194 SCV003010875 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 728 of the CLCN4 protein (p.Thr728Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLCN4-related conditions. ClinVar contains an entry for this variant (Variation ID: 100836). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087194 SCV000120056 probable-pathogenic not provided flagged submission not provided Converted during submission to Likely pathogenic.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087194 SCV000155159 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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