ClinVar Miner

Submissions for variant NM_005902.3(SMAD3):c.364G>A (p.Val122Met) (rs587782977)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics, RCV000143952 SCV000188832 likely pathogenic Loeys-Dietz syndrome 2013-11-12 no assertion criteria provided clinical testing
Invitae RCV000230825 SCV000289110 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-02-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 122 of the SMAD3 protein (p.Val122Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SMAD3-related disease. ClinVar contains an entry for this variant (Variation ID: 155836). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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