ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.5314C>T (p.Leu1772Phe)

gnomAD frequency: 0.00003  dbSNP: rs756032721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349464 SCV001543809 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1772 of the TUBGCP6 protein (p.Leu1772Phe). This variant is present in population databases (rs756032721, gnomAD 0.07%). 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: 1045113). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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