ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)

gnomAD frequency: 0.00016  dbSNP: rs587778397
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000121195 SCV000539306 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is classified in HGMD as DM and has been reported in 1 patient with diabetes and one healthy patient. This variant is present in ClinVar with no interpretation (Submission by ITMI). The Max MAF in ExAC is 0.035%.
Mendelics RCV000988921 SCV001138841 uncertain significance Maturity-onset diabetes of the young type 3 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001770095 SCV002004563 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 12488961, 24728327, 28395978, 26556299, 32041611)
Invitae RCV001770095 SCV002389191 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463644 SCV002605011 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 rs587778397 with MODY3.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001770095 SCV002774991 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
ITMI RCV000121195 SCV000085365 not provided not specified 2013-09-19 no assertion provided reference population

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