ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs)

dbSNP: rs770128720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000328813 SCV000338448 pathogenic not provided 2016-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003619668 SCV004525978 pathogenic DNA ligase IV deficiency 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile584Argfs*2) in the LIG4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 328 amino acid(s) of the LIG4 protein. This variant is present in population databases (rs770128720, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with LIG4-related conditions (PMID: 25239263). ClinVar contains an entry for this variant (Variation ID: 285436). This variant disrupts a region of the LIG4 protein in which other variant(s) (p.Arg814*) have been determined to be pathogenic (PMID: 11779494, 16088910, 24123394, 25239263, 27063650, 27612988). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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