ClinVar Miner

Submissions for variant NM_022895.3(C12orf43):c.*2956C>T

gnomAD frequency: 0.00237  dbSNP: rs112986697
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712193 SCV000513249 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000417949 SCV000595132 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000417949 SCV001880067 benign not specified 2021-04-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002328914 SCV002601638 likely benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs112986697 with MODY3.
Ambry Genetics RCV002328914 SCV002736835 uncertain significance Maturity onset diabetes mellitus in young 2015-09-27 criteria provided, single submitter clinical testing The c.*5G>A variant is located in the 3' untranslated region (3’ UTR) of the HNF1A gene. This variant results from a G to A substitution five bases downstream of the last translated codon. This variant was previously reported in the SNPDatabase as rs112986697. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.14% (3/2098) total alleles studied. The highest observed frequency was 0.86% (1/116) Mexican-American alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.28% (37/13006) total alleles studied, having been observed in 0.84% (37/4406) African American alleles. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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