ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2204C>T (p.Ala735Val)

dbSNP: rs868661838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698532 SCV000827200 uncertain significance Long QT syndrome 2018-02-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 alanine with valine at codon 735 of the ANK2 protein (p.Ala735Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV002424677 SCV002729549 uncertain significance Cardiovascular phenotype 2020-12-10 criteria provided, single submitter clinical testing The p.A735V variant (also known as c.2204C>T), located in coding exon 20 of the ANK2 gene, results from a C to T substitution at nucleotide position 2204. The alanine at codon 735 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692155 SCV005190234 uncertain significance not provided criteria provided, single submitter not provided

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