ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.1517G>A (p.Cys506Tyr)

dbSNP: rs2136195685
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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 RCV001948662 SCV002212589 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-04-23 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. 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. This variant has not been reported in the literature in individuals with TCTN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 506 of the TCTN1 protein (p.Cys506Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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