ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.8066T>C (p.Val2689Ala)

dbSNP: rs1188787464
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015796 SCV002297127 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2689 of the ANK3 protein (p.Val2689Ala). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANK3 protein function. ClinVar contains an entry for this variant (Variation ID: 1500629). This variant has not been reported in the literature in individuals affected with ANK3-related conditions.

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