ClinVar Miner

Submissions for variant NM_003836.7(DLK1):c.103G>C (p.Gly35Arg)

dbSNP: rs762558665
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau RCV001374438 SCV001571250 uncertain significance Silver-Russell syndrome 1 2021-04-15 no assertion criteria provided clinical testing The p.(Gly35Arg) has been identified in the heterozygous state in a patient with a clinical suspicion of Silver Russell syndrome. Gly35 is located within the first EGF-like motif in 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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