ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.1354AAG[1] (p.Lys453del)

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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 RCV003556707 SCV004277841 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing This variant, c.1357_1359del, results in the deletion of 1 amino acid(s) of the KLF11 protein (p.Lys453del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs762621409, gnomAD 0.02%). This variant has been observed in individual(s) with clinical features of maturity-onset diabetes of the young (PMID: 32741144). 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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