ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.900C>T (p.Pro300=)

gnomAD frequency: 0.00003  dbSNP: rs762555237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244789 SCV000305110 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057391 SCV002408747 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002328739 SCV002601695 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 rs762555237 with MODY3.
Genetic Services Laboratory, University of Chicago RCV000244789 SCV003839580 likely benign not specified 2022-08-06 no assertion criteria provided clinical testing

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