ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.9160T>C (p.Phe3054Leu)

gnomAD frequency: 0.00014  dbSNP: rs138858281
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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 RCV001940312 SCV002190984 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 3054 of the ANK3 protein (p.Phe3054Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs138858281, gnomAD 0.05%). 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: 1417969). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002556447 SCV003610006 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.9160T>C (p.F3054L) alteration is located in exon 37 (coding exon 37) of the ANK3 gene. This alteration results from a T to C substitution at nucleotide position 9160, causing the phenylalanine (F) at amino acid position 3054 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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