ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1762_1764del (p.Lys588del)

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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 RCV005203244 SCV005835440 pathogenic DNA ligase IV deficiency 2025-01-28 criteria provided, single submitter clinical testing This variant, c.1762_1764del, results in the deletion of 1 amino acid(s) of the LIG4 protein (p.Lys588del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with LIG4-related conditions (PMID: 19418549; external communications, internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. Studies have shown that this variant alters LIG4 gene expression (PMID: 19418549). For these reasons, this variant has been classified as Pathogenic.

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