ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)

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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 RCV002756077 SCV003025165 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-06-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 604 of the TCTN2 protein (p.Cys604Arg). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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