ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1624-19G>A

gnomAD frequency: 0.00011  dbSNP: rs193922586
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000242135 SCV000053157 benign not specified 2025-01-08 criteria provided, single submitter clinical testing Variant summary: HNF1A c.1624-19G>A alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0025 in 250746 control chromosomes in the gnomAD database, including 12 homozygotes. The observed variant frequency is approximately 99 fold of the estimated maximal expected allele frequency for a pathogenic variant in HNF1A causing Maturity Onset Diabetes Of The Young 3 phenotype (2.5e-05). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 36807). Based on the evidence outlined above, the variant was classified as benign.
PreventionGenetics, part of Exact Sciences RCV000242135 SCV000305104 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242135 SCV000513247 likely benign not specified 2015-12-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511166 SCV001718364 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000242135 SCV001880075 benign not specified 2021-03-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463617 SCV002605151 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 rs193922586 with MODY3.

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