ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1753C>T (p.Pro585Ser)

gnomAD frequency: 0.00001  dbSNP: rs759505934
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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 RCV001935369 SCV002187113 uncertain significance not provided 2023-04-24 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. 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. ClinVar contains an entry for this variant (Variation ID: 1406204). This missense change has been observed in individual(s) with clinical features of TUBGCP6-related condition (PMID: 34906519). This variant is present in population databases (rs759505934, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 585 of the TUBGCP6 protein (p.Pro585Ser).

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