ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.714dup (p.Ile239fs)

dbSNP: rs2124278051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895861 SCV002153219 uncertain significance Reticular dysgenesis 2021-04-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with AK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the AK2 gene (p.Ile239Tyrfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the AK2 protein and extend the protein by 13 additional amino acid residues. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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