ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.12436G>A (p.Gly4146Arg)

gnomAD frequency: 0.00001  dbSNP: rs184370155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425702 SCV000535273 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing The G4146R variant in the ANK3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G4146R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G4146R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G4146R as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000425702 SCV002942837 uncertain significance not provided 2021-12-14 criteria provided, single submitter clinical testing 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 392067). This variant has not been reported in the literature in individuals affected with ANK3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 4146 of the ANK3 protein (p.Gly4146Arg).

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