ClinVar Miner

Submissions for variant NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter)

dbSNP: rs1131691755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494088 SCV000582766 pathogenic not provided 2015-10-30 criteria provided, single submitter clinical testing The L58X pathogenic variant in the SMAD2 gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. The L58X variant was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. We interpret L58X as a pathogenic variant.

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