ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2900+5143G>A

gnomAD frequency: 0.00005  dbSNP: rs368551890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813139 SCV001473859 uncertain significance not provided 2020-01-05 criteria provided, single submitter clinical testing The ANK2 c.532G>A, p.Ala178Thr variant (rs368551890), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the East Asian population with an allele frequency of 0.03% (6/17,910 alleles) in the Genome Aggregation Database. The alanine at codon 178 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala178Thr variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV002486077 SCV002788603 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-10-13 criteria provided, single submitter clinical testing

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