ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1304G>A (p.Gly435Asp)

gnomAD frequency: 0.00004  dbSNP: rs368378157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193380 SCV000249315 uncertain significance not specified 2014-12-11 criteria provided, single submitter clinical testing
Invitae RCV001853117 SCV002311411 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 435 of the TUBGCP6 protein (p.Gly435Asp). This variant is present in population databases (rs368378157, gnomAD 0.02%). 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: 212505). 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.
Ambry Genetics RCV003165440 SCV003907734 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.1304G>A (p.G435D) alteration is located in exon 5 (coding exon 5) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 1304, causing the glycine (G) at amino acid position 435 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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