ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.553-3T>C

dbSNP: rs1554827672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607849 SCV000732834 likely benign not specified 2017-06-26 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.
Ambry Genetics RCV002343171 SCV002649390 uncertain significance Cardiovascular phenotype 2021-10-29 criteria provided, single submitter clinical testing The c.553-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 6 in the ANKRD1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531725 SCV003254035 uncertain significance ANKRD1-related dilated cardiomyopathy 2023-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ANKRD1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 518177). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the ANKRD1 gene. It does not directly change the encoded amino acid sequence of the ANKRD1 protein. It affects a nucleotide within the consensus splice site.

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