Submissions for variant NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs)

gnomAD frequency: 0.00008  dbSNP: rs775659848

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001344437	SCV001538490	uncertain significance	not provided	2022-08-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg1763Leufs*33) in the TUBGCP6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the TUBGCP6 protein. This variant is present in population databases (rs775659848, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040743). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx	RCV001344437	SCV003805013	likely pathogenic	not provided	2022-08-08	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation, as the last 57 amino acids are replaced with 32 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493847	SCV004242512	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing