ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3351_3431dup (p.1112NASIRVGENVSDVAPTRPRWNTHGHVS[3])

dbSNP: rs2064510442
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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 RCV002045538 SCV002287979 uncertain significance not provided 2021-01-19 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.3351_3431dup, results in the insertion of 27 amino acid(s) to the TUBGCP6 protein (p.Asn1139_Ser1165dup), but otherwise preserves the integrity of the reading frame.

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