ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7531C>T (p.Arg2511Ter)

dbSNP: rs2154024936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753244 SCV002007199 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004040731 SCV003551880 pathogenic Cardiovascular phenotype 2020-10-22 criteria provided, single submitter clinical testing The c.7531C>T (p.R2511*) alteration, located in exon 38 (coding exon 38) of the ANK2 gene, consists of a C to T substitution at nucleotide position 7531. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 2511. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.

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