ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)

dbSNP: rs1565883574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729628 SCV000857304 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000729628 SCV001820735 likely pathogenic not provided 2020-11-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002319572 SCV002604962 likely 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 rs1565883574 with MODY3.

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