ClinVar Miner

Submissions for variant NM_080424.2(SP110):c.877A>T (p.Lys293Ter) (rs199845488)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169676 SCV000221213 likely pathogenic Hepatic venoocclusive disease with immunodeficiency 2014-01-27 criteria provided, single submitter clinical testing The c.877A>T_p.Lys293X variant in SP110 has not been reported in individuals with veno-occlusive disease with immunodeficiency or in large population studies. This nonsense variant leads to a premature termination codon at position 293, which is predicted to lead to a truncated or absent protein. Several other truncating variants have been reported and they are associated with autosomal recessive hepatic veno-occlusive disease with immunodeficiency (Roscioli 2006; Cliffe 2012). In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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