ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu)

gnomAD frequency: 0.00062  dbSNP: rs142435821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502886 SCV000597763 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV001042866 SCV001206573 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 398 of the TUBGCP6 protein (p.Ser398Leu). This variant is present in population databases (rs142435821, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. 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: 437160). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002524325 SCV003749183 likely benign Inborn genetic diseases 2022-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001042866 SCV004698628 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TUBGCP6: BP4

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