ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.1321G>A (p.Ala441Thr)

gnomAD frequency: 0.00001  dbSNP: rs1280248831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226309 SCV001398620 uncertain significance not provided 2019-09-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CLCN4-related conditions. 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: "Benign"; 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. This sequence change replaces alanine with threonine at codon 441 of the CLCN4 protein (p.Ala441Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency).

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