ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.551C>T (p.Ala184Val)

gnomAD frequency: 0.00001  dbSNP: rs150345345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069165 SCV001234314 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 184 of the TUBGCP6 protein (p.Ala184Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs150345345, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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