ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.201del (p.Lys68fs)

dbSNP: rs1385251852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Genomics Laboratory, University of Maryland School of Medicine RCV000754810 SCV000882460 likely pathogenic Maturity-onset diabetes of the young type 1 2017-09-05 criteria provided, single submitter clinical testing The c.192delG variant in codon 64 (exon 2) of the Hepatocyte Nuclear Factor 4-Alpha gene, HNF4A, results in a frame shifting change in the protein with the Lysine at codon 65 being the first changed amino acid. The c.192delG variant was not observed in the NHLBI Exome Sequencing Project (ESP), 1000 Genomes Project, or Exome Aggregation Consortium (ExAC) databases. Loss of function frameshift and nonsense mutations in the HNF4A gene, including ones in exon 2, have been reported previously in patients with Maturity-Onset Diabetes of the Young, Type 1 (MODY1) (23348805). ACMG criteria = PVS1, PM2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148857 SCV003804605 likely risk allele Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in HNF4A are associated with poor insulin secretion in response to hyperglycemia. Associated with MODY1. Patients initially respond well to sulfonylureas but eventually become insulin dependent. However, more evidence is required to ascertain the role of this particular variant rs1385251852 in MODY, yet.

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