ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.848A>T (p.Asp283Val)

dbSNP: rs2135836324
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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 RCV001888636 SCV002140469 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-21 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TCTN2 protein function. ClinVar contains an entry for this variant (Variation ID: 1377695). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 283 of the TCTN2 protein (p.Asp283Val).

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