ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp)

gnomAD frequency: 0.00004  dbSNP: rs764568631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335970 SCV001529236 uncertain significance Microcephaly and chorioretinopathy 1 2018-05-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546754 SCV003269453 uncertain significance not provided 2022-08-16 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 1157 of the TUBGCP6 protein (p.Arg1157Trp). This variant is present in population databases (rs764568631, 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: 1033531). 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: "Not Available"; 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 RCV004035799 SCV004973551 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.3469C>T (p.R1157W) 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 3469, causing the arginine (R) at amino acid position 1157 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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