ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) (rs760376471)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229580 SCV000290901 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2016-02-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 244 of the TCTN2 protein (p.Thr244Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs760376471, ExAC 0.001%) but has not been reported in the literature in individuals with a TCTN2-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 rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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