ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg)

gnomAD frequency: 0.00103  dbSNP: rs141304623
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445514 SCV000537090 likely benign Monogenic diabetes 2015-11-10 criteria provided, single submitter research ACMG Criteria: PP3, BS2 (type2diabetesgenetics.org), BP4
Athena Diagnostics RCV000713789 SCV000844421 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713789 SCV002469221 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002329007 SCV002601620 uncertain risk allele 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 rs141304623 with MODY3.
Ambry Genetics RCV002329007 SCV002713654 likely benign Maturity onset diabetes mellitus in young 2022-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003960015 SCV004769025 likely benign HNF1A-related disorder 2021-05-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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