ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2281C>T

dbSNP: rs1877412433
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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 RCV002023810 SCV002304489 uncertain significance Loeys-Dietz syndrome 2 2020-12-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TMPO-related conditions. This sequence change replaces threonine with isoleucine at codon 621 of the TMPO protein (p.Thr621Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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