ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.525A>G (p.Glu175=)

gnomAD frequency: 0.00001  dbSNP: rs368528856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088063 SCV000632793 likely benign Juvenile polyposis syndrome 2023-07-20 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.
Ambry Genetics RCV002319040 SCV001185733 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003960284 SCV004770843 likely benign SMAD4-related condition 2022-10-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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