ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn)

gnomAD frequency: 0.00004  dbSNP: rs552242241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705150 SCV000834135 uncertain significance DNA ligase IV deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 536 of the LIG4 protein (p.Ser536Asn). This variant is present in population databases (rs552242241, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LIG4-related conditions. ClinVar contains an entry for this variant (Variation ID: 581350). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LIG4 protein function. 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.
Genetic Services Laboratory, University of Chicago RCV001816733 SCV002068877 uncertain significance not specified 2017-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000705150 SCV003814602 uncertain significance DNA ligase IV deficiency 2022-02-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792414 SCV005409642 uncertain significance not provided 2024-04-24 criteria provided, single submitter clinical testing BP4

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