ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys)

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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 RCV002633580 SCV003514437 benign Long QT syndrome 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003340643 SCV004058364 uncertain significance Cardiovascular phenotype 2023-07-21 criteria provided, single submitter clinical testing The p.E3704K variant (also known as c.11110G>A), located in coding exon 42 of the ANK2 gene, results from a G to A substitution at nucleotide position 11110. The glutamic acid at codon 3704 is replaced by lysine, an amino acid with 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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