ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1575G>A

dbSNP: rs1060502980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475688 SCV000551448 uncertain significance Loeys-Dietz syndrome 2 2016-10-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TMPO-related disease. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). The isoleucine 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. This sequence change replaces valine with isoleucine at codon 386 of the TMPO protein (p.Val386Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.

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