ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr)

gnomAD frequency: 0.00001  dbSNP: rs760245764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946358 SCV002211507 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 30 of the TCTN2 protein (p.Ile30Thr). This variant is present in population databases (rs760245764, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1434589). 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 tolerated. 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.
GeneDx RCV004794561 SCV005415008 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing Has been observed in next generation data filtered variants in a patient with CHARGE syndrome and causative variant in CHD7 (PMID: 31146700); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31146700)

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