ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1193G>T (p.Gly398Val)

dbSNP: rs538646268
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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 RCV001326488 SCV001517519 uncertain significance DNA ligase IV deficiency 2021-02-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LIG4-related conditions. This sequence change replaces glycine with valine at codon 398 of the LIG4 protein (p.Gly398Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). 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 C15"). 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.

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