ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)

dbSNP: rs1060499662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449526 SCV000537724 likely pathogenic DNA ligase IV deficiency 2014-07-07 criteria provided, single submitter clinical testing This heterozygous variant in the LIG4 gene (autosomal recessive transmission) was identified in a twin pair (one male and one female patient) with extreme growth delay, who also harbours another variant in the LIG4 gene (compound heterozygosity)

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