ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1312T>C (p.Tyr438His)

gnomAD frequency: 0.00001  dbSNP: rs886037777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sidra Medicine RCV000241548 SCV000264321 likely pathogenic DNA ligase IV deficiency criteria provided, single submitter clinical testing 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux. She comes from a highly consanguineous family, with 3 first cousins died at early age of severe infections.

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