ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11313A>C (p.Glu3771Asp)

gnomAD frequency: 0.00001  dbSNP: rs1261133929
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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 RCV000631576 SCV000752658 uncertain significance Long QT syndrome 2017-09-25 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ANK2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 3771 of the ANK2 protein (p.Glu3771Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Ambry Genetics RCV002325210 SCV002608083 uncertain significance Cardiovascular phenotype 2022-07-19 criteria provided, single submitter clinical testing The p.E3771D variant (also known as c.11313A>C), located in coding exon 42 of the ANK2 gene, results from an A to C substitution at nucleotide position 11313. The glutamic acid at codon 3771 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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