ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.521T>A (p.Leu174His) (rs869025534)

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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 RCV000208388 SCV000264242 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-03-04 criteria provided, single submitter clinical testing
Invitae RCV000232112 SCV000287911 uncertain significance Loeys-Dietz syndrome 4 2016-01-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with histidine at codon 174 of the TGFB3 protein (p.Leu174His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TGFB3-related disease. 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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