ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.3655A>G (p.Ile1219Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003349131 SCV004051664 uncertain significance Cardiovascular phenotype 2023-07-15 criteria provided, single submitter clinical testing The p.I1219V variant (also known as c.3655A>G), located in coding exon 31 of the ANK2 gene, results from an A to G substitution at nucleotide position 3655. The isoleucine at codon 1219 is replaced by valine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003533852 SCV004369499 benign Long QT syndrome 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV004763660 SCV005370149 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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