ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)

gnomAD frequency: 0.00003  dbSNP: rs757875185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819319 SCV002069474 uncertain significance not specified 2018-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482360 SCV002775463 uncertain significance Maturity-onset diabetes of the young type 7 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003718438 SCV004508645 uncertain significance not provided 2023-09-30 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1336833). This missense change has been observed in individual(s) with dyslipidemia (PMID: 32041611). This variant is present in population databases (rs757875185, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 466 of the KLF11 protein (p.Ser466Cys).

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