ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1242A>C (p.Val414=)

gnomAD frequency: 0.00001  dbSNP: rs150828164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027792 SCV001190402 uncertain significance DNA ligase IV deficiency 2019-08-05 criteria provided, single submitter clinical testing LIG4 NM_002312.3 exon 2 p.Val414= (c.1242A>C): This variant has not been reported in the literature but is present in 0.0002% (1/34576) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/13-108862375-T-G). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, computational tools designed to predict splicing suggest a potential effect from this variant. However, further studies are needed to understand its impact. In addition, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001027792 SCV001646871 likely benign DNA ligase IV deficiency 2024-07-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224505 SCV003920147 uncertain significance DNA ligase IV deficiency; Multiple myeloma 2021-03-30 criteria provided, single submitter clinical testing LIG4 NM_002312.3 exon 2 p.Val414= (c.1242A>C): This variant has not been reported in the literature but is present in 0.0002% (1/34576) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/13-108862375-T-G). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, computational tools designed to predict splicing suggest a potential effect from this variant. However, further studies are needed to understand its impact. In addition, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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