ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.864_897del (p.Pro290fs)

dbSNP: rs1565885935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709725 SCV000839960 pathogenic Maturity-onset diabetes of the young type 3 2017-07-05 criteria provided, single submitter clinical testing The c.864_897del (p.Pro290Leufs*41) variant in the HNF1A gene has not been reported in public databases, nor has been observed in our patient cohort. This 34 bp deletion in exon 4 results in a frameshift and the creation of a premature stop codon at amino acid position 330, and is expected to result in a loss of function of the protein. This variant is thus classified as pathogenic.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002319567 SCV002604891 likely pathogenic 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 rs1565885935 with MODY3.

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