ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4371+5C>T

gnomAD frequency: 0.00001  dbSNP: rs891690526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432275 SCV000512037 likely benign not specified 2016-07-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000823603 SCV000964468 uncertain significance Long QT syndrome 2023-12-19 criteria provided, single submitter clinical testing This sequence change falls in intron 35 of the ANK2 gene. It does not directly change the encoded amino acid sequence of the ANK2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 377477). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV004022284 SCV003707624 uncertain significance Cardiovascular phenotype 2022-09-15 criteria provided, single submitter clinical testing The c.4371+5C>T intronic alteration consists of a C to T substitution 5 nucleotides after exon 35 of the ANK2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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