ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3958C>T (p.Arg1320Trp)

gnomAD frequency: 0.00011  dbSNP: rs149423531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206810 SCV001378139 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1320 of the TUBGCP6 protein (p.Arg1320Trp). This variant is present in population databases (rs149423531, 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: 937728). 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: "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.
GeneDx RCV001206810 SCV002817747 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561236 SCV003726465 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.3958C>T (p.R1320W) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a C to T substitution at nucleotide position 3958, causing the arginine (R) at amino acid position 1320 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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