ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.1A>G (p.Met1Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702294 SCV000831142 uncertain significance Loeys-Dietz syndrome 4 2018-10-11 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TGFB3 mRNA. The next in-frame methionine is located at codon 3. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TGFB3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acid(s) is currently unknown. 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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