ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-28 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%). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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