ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.27+1G>T

gnomAD frequency: 0.00003  dbSNP: rs779910001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256726 SCV001433132 uncertain significance Hypertrophic cardiomyopathy 1 2019-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879961 SCV002261615 uncertain significance ANKRD1-related dilated cardiomyopathy 2025-01-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the ANKRD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ANKRD1 cause disease. This variant is present in population databases (rs779910001, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANKRD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 978293). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002430057 SCV002742842 uncertain significance Cardiovascular phenotype 2022-02-20 criteria provided, single submitter clinical testing The c.27+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 1 of the ANKRD1 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. This nucleotide position is highly conserved in available vertebrate species. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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