ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.366A>G (p.Lys122=) (rs1057524633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579520 SCV000686538 likely benign Hereditary cancer-predisposing syndrome 2016-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000438520 SCV000536116 likely benign not specified 2017-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000696232 SCV000824784 uncertain significance Juvenile polyposis syndrome 2018-07-13 criteria provided, single submitter clinical testing This sequence change affects codon 122 of the SMAD4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMAD4 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMAD4-related disease. ClinVar contains an entry for this variant (Variation ID: 392789). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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