ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1819dup (p.Gln607fs)

dbSNP: rs1555212747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV002250369 SCV002520667 uncertain significance Monogenic diabetes 2022-05-04 reviewed by expert panel curation The c.1819dupC variant in the HNF1 homeobox A gene, HNF1A, causes a frameshift in the protein at codon 607 (NM_000545.8), adding 42 novel amino acids before encountering a stop codon (p.(Gln607ProfsTer42). While this variant, located in exon 10 of 10, is not predicted to result in nonsense mediated decay of the transcript, it will significantly disrupt the transactivation domain of the protein and add 16 additional amino acids to the end of the protein (PVS1_Strong). Additionally, this variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, c.1819dupC meets the criteria to be classified as a variant of uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/21): PVS1_Strong, PM2_Supporting.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002329205 SCV002601634 uncertain significance 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 rs1555212747 with MODY3.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505657 SCV000599869 pathogenic Maturity-onset diabetes of the young type 3 2017-04-20 no assertion criteria provided clinical testing

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