ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1825T>C (p.Cys609Arg)

gnomAD frequency: 0.00004  dbSNP: rs149247581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227626 SCV001399991 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 609 of the TUBGCP6 protein (p.Cys609Arg). This variant is present in population databases (rs149247581, gnomAD 0.004%). 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: 955055). 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: "Possibly 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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