ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.978G>A (p.Ala326=)

gnomAD frequency: 0.00002  dbSNP: rs200351196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288503 SCV001475663 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Invitae RCV001288503 SCV001673272 likely benign not provided 2022-08-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002327625 SCV002601699 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 rs200351196 with MODY3.
Ambry Genetics RCV002327625 SCV002695179 likely benign Maturity onset diabetes mellitus in young 2022-06-12 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.

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