ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.712A>G (p.Ile238Val)

gnomAD frequency: 0.00019  dbSNP: rs149012859
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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 RCV000823935 SCV000964810 likely benign DNA ligase IV deficiency 2025-01-21 criteria provided, single submitter clinical testing
New York Genome Center RCV000823935 SCV002099178 uncertain significance DNA ligase IV deficiency 2021-03-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000823935 SCV003814605 uncertain significance DNA ligase IV deficiency 2020-08-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224478 SCV003920149 uncertain significance DNA ligase IV deficiency; Multiple myeloma 2021-03-30 criteria provided, single submitter clinical testing LIG4 NM_002312.3 exon 2 p.Ile238Val (c.712A>G): This variant has not been reported in the literature but is present in 0.04% (10/24894) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/13-108862905-T-C). This variant amino acid Valine (Val) is present in >30 species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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