ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4675_4676del (p.Asn1559fs)

dbSNP: rs2519123497
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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 RCV003032050 SCV003329364 uncertain significance not provided 2022-03-12 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TUBGCP6 gene (p.Asn1559Leufs*271). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 261 amino acid(s) of the TUBGCP6 protein and extend the protein by 9 additional amino acid residues.

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