ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.6584G>A (p.Ser2195Asn)

gnomAD frequency: 0.00002  dbSNP: rs730880047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753551 SCV002007266 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015)
Ambry Genetics RCV004019892 SCV005016703 uncertain significance Cardiovascular phenotype 2023-12-21 criteria provided, single submitter clinical testing The p.S2195N variant (also known as c.6584G>A), located in coding exon 38 of the ANK2 gene, results from a G to A substitution at nucleotide position 6584. The serine at codon 2195 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000157110 SCV000206833 uncertain significance Long QT syndrome 2014-07-07 no assertion criteria provided clinical testing

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