ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.741A>G (p.Gly247=) (rs1555685919)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598813 SCV000710568 uncertain significance not specified 2018-02-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SMAD4 gene. The c.741 A>G variant has not been published as pathogenic or been reported as benign to our knowledge. Although the c.741 A>G variant results in a synonymous amino acid substitution (G247=), this nucleotide substitution occurs at a position that is conserved across species. Furthermore, the c.741 A>G variant was not observed in large population cohorts (Lek et al., 2016). However, in silico splice prediction programs do not predict c.741 A>G has an impact on gene splicing. Nevertheless, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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