ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4090_4091del (p.Ser1364fs)

gnomAD frequency: 0.00001  dbSNP: rs772772535
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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 RCV002035400 SCV002231118 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451832). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. This variant is present in population databases (rs772772535, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Ser1364Cysfs*3) in the TUBGCP6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TUBGCP6 are known to be pathogenic (PMID: 25344692).

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