ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1A>G (p.Met1Val) (rs1064795777)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481044 SCV000571908 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing This variant, denoted SMAD4 c.1A>G at the cDNA level, alters the initiator Methionine codon, and the resultant protein would be described as “p.Met1?” to signify that it is not known if the loss of Met1 prevents all protein translation or if an abnormal protein is produced using an alternate Methionine codon. SMAD4 c.1A>G has not, to our knowledge, been published as pathogenic, nor has it been reported as a benign polymorphism. Based on current evidence, we consider this to be a variant of uncertain significance.

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