ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.8746A>G (p.Ile2916Val)

gnomAD frequency: 0.00001  dbSNP: rs375389082
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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 RCV000194383 SCV000246409 uncertain significance not specified 2015-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852543 SCV002299569 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2916 of the ANK3 protein (p.Ile2916Val). This variant is present in population databases (rs375389082, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ANK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 210178). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine 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.
GenomeConnect - Invitae Patient Insights Network RCV003483569 SCV004228629 not provided Intellectual disability-hypotonia-spasticity-sleep disorder syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-10-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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