ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1829C>T (p.Pro610Leu)

gnomAD frequency: 0.00002  dbSNP: rs557715113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329144 SCV001520484 uncertain significance Microcephaly and chorioretinopathy 1 2019-09-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001863198 SCV002293692 uncertain significance not provided 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 610 of the TUBGCP6 protein (p.Pro610Leu). This variant is present in population databases (rs557715113, gnomAD 0.01%). 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1028168). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions.

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