ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.252C>T (p.Pro84=)

gnomAD frequency: 0.00215  dbSNP: rs78772552
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121189 SCV000522524 benign not specified 2016-09-28 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 RCV000861382 SCV001001682 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000121189 SCV001474904 benign not specified 2020-07-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121189 SCV002065004 benign not specified 2017-09-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002326704 SCV002600911 likely 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 rs78772552 with MODY3.
Ambry Genetics RCV002326704 SCV002740517 benign Maturity onset diabetes mellitus in young 2016-08-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315518 SCV004015766 benign Nonpapillary renal cell carcinoma 2023-07-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030496 SCV000053167 not provided Maturity-onset diabetes of the young type 3 2011-11-26 no assertion provided clinical testing
ITMI RCV000121189 SCV000085358 not provided not specified 2013-09-19 no assertion provided reference population

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