ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.451G>A (p.Asp151Asn)

gnomAD frequency: 0.00001  dbSNP: rs756427274
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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 RCV001874405 SCV002132269 uncertain significance not provided 2022-06-13 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 tolerated. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs756427274, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 151 of the TUBGCP6 protein (p.Asp151Asn).

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