ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4390+1G>A

dbSNP: rs2150580336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031289 SCV002314610 likely pathogenic not provided 2021-08-19 criteria provided, single submitter clinical testing 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with ANK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 36 of the ANK1 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), and loss-of-function variants in ANK1 are known to be pathogenic (PMID: 8640229).
Revvity Omics, Revvity RCV003130683 SCV003808126 likely pathogenic Hereditary spherocytosis type 1 2022-10-28 criteria provided, single submitter clinical testing

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