ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln)

dbSNP: rs748632851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785006 SCV000923556 uncertain significance Microcephaly and chorioretinopathy 1 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001869168 SCV002186065 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 634513). 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"). This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1521 of the TUBGCP6 protein (p.Arg1521Gln).

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