ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.185A>G (p.Gln62Arg)

gnomAD frequency: 0.08880  dbSNP: rs35927125
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000117438 SCV000309718 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321050 SCV000415756 likely benign Maturity-onset diabetes of the young type 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001668243 SCV001882920 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15774581)
Invitae RCV001668243 SCV002401865 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250563 SCV002520722 likely risk allele Type 2 diabetes mellitus criteria provided, single submitter research KLF11 gene mutations are associated with MODY, however it needs further validation via clinical studies. This particular variant (rs35927125) of KLF11 gene can trigger Type II Diabetes Mellitus. However, more studies are required in different ethnic groups to ascertain its significance.
Genetic Services Laboratory, University of Chicago RCV000117438 SCV000151639 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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