ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1720T>C (p.Cys574Arg)

gnomAD frequency: 0.00001  dbSNP: rs201308256
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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 RCV001867501 SCV002128474 uncertain significance DNA ligase IV deficiency 2021-08-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 574 of the LIG4 protein (p.Cys574Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs201308256, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with LIG4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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