ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser)

gnomAD frequency: 0.00041  dbSNP: rs139974572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502861 SCV000597766 uncertain significance not specified 2015-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000908101 SCV001052842 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023406 SCV004972864 likely benign Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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