ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2728G>A (p.Val910Met)

dbSNP: rs745309410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952159 SCV002192143 uncertain significance not provided 2024-11-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 910 of the TUBGCP6 protein (p.Val910Met). This variant is present in population databases (rs745309410, gnomAD 0.03%). 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: 1418519). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003247160 SCV003966320 uncertain significance Inborn genetic diseases 2023-03-23 criteria provided, single submitter clinical testing The c.2728G>A (p.V910M) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 2728, causing the valine (V) at amino acid position 910 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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