ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.525A>G (p.Glu175=) (rs368528856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756669 SCV000632793 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756669 SCV000884552 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing The SMAD4 c.525A>G; p.Glu175Glu variant (rs368528856) is not reported in the medical literature or in gene-specific databases. The variant is listed as likely benign in the ClinVar database (Variation ID: 460556). This variant is found in the African population with an overall allele frequency of 0.2% (3/15304 alleles) in the Genome Aggregation Database. This is a synonymous change, the nucleotide is not conserved, and computational algorithms do not predict a significant change to splicing (Alamut v.2.11). Considering available information, this variant is classified as likely benign.

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