ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.559G>A (p.Gly187Ser) (rs201063101)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172111 SCV000051054 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000654898 SCV000776802 uncertain significance Loeys-Dietz syndrome 4 2017-09-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 187 of the TGFB3 protein (p.Gly187Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs201063101, ExAC 0.009%). This variant has not been reported in the literature in individuals with TGFB3-related disease. ClinVar contains an entry for this variant (Variation ID: 191778). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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