ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.156C>T (p.Gly52=)

gnomAD frequency: 0.00086  dbSNP: rs150195625
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862745 SCV001003293 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000862745 SCV002015279 benign not provided 2021-11-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002332769 SCV002601676 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 rs150195625 with MODY3.
Ambry Genetics RCV002332769 SCV002709992 likely benign Maturity onset diabetes mellitus in young 2022-03-30 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 RCV003965656 SCV004783510 likely benign HNF1A-related disorder 2020-08-10 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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