ClinVar Miner

Submissions for variant NM_003836.7(DLK1):c.194A>G (p.His65Arg)

gnomAD frequency: 0.00051  dbSNP: rs147224004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003394015 SCV004130405 benign not provided 2023-04-01 criteria provided, single submitter clinical testing DLK1: BS1, BS2
Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau RCV001374439 SCV001571252 uncertain significance Silver-Russell syndrome 1 2021-04-15 no assertion criteria provided clinical testing The p.(His65Arg) has been identified in the heterozygous state in a patient with a clinical suspicion of Silver Russell syndrome. ). His65 is located within the second EGF-like motif of the extracellular domain of DLK1. This variant was inherited from her healthy mother, who carried the same heterozygous variant. As DLK1 is a maternally imprinted/paternally expressed gene, this variant is unlikely to explain the phenotype of the patient

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