ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)

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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 RCV003083840 SCV003467051 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-23 criteria provided, single submitter clinical testing 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. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 49 of the TCTN1 protein (p.Pro49Leu). This variant is present in population databases (rs571241015, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TCTN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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