ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.172A>G (p.Ile58Val) (rs786204166)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573396 SCV000671978 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000168179 SCV000785733 uncertain significance Juvenile polyposis syndrome 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV000168179 SCV000218842 uncertain significance Juvenile polyposis syndrome 2018-05-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 58 of the SMAD4 protein (p.Ile58Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: “possibly damaging”; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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