ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1223C>T (p.Thr408Met)

gnomAD frequency: 0.00014  dbSNP: rs371357025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365813 SCV001562096 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 408 of the TUBGCP6 protein (p.Thr408Met). This variant is present in population databases (rs371357025, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of TUBGCP6-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1056913). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815469 SCV005071744 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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