ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2262del (p.Phe754fs)

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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 RCV003620057 SCV004387067 pathogenic DNA ligase IV deficiency 2023-09-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LIG4 protein in which other variant(s) (p.Gln904*) have been determined to be pathogenic (PMID: 34630384). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with LIG4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe754Leufs*18) in the LIG4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 158 amino acid(s) of the LIG4 protein.

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