ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg)

gnomAD frequency: 0.00001  dbSNP: rs1565956183
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691416 SCV000819194 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 78 of the TCTN1 protein (p.Cys78Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TCTN1-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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