ClinVar Miner

Submissions for variant NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)

dbSNP: rs1064794050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479354 SCV000567677 pathogenic not provided 2015-09-05 criteria provided, single submitter clinical testing The Y26X nonsense variant in the IGF2 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. Y26Xwas not observed in approximately 6500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. We interpret Y26X as a pathogenic variant.
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie RCV000491853 SCV000297816 pathogenic Silver-Russell syndrome 1 no assertion criteria provided research

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