ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.210C>T (p.Ser70=)

gnomAD frequency: 0.00061  dbSNP: rs146686581
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000121187 SCV000613608 benign not specified 2017-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864048 SCV001004794 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002326821 SCV002601690 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 rs146686581 with MODY3.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315758 SCV004015764 benign Nonpapillary renal cell carcinoma 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326821 SCV005036118 likely benign Maturity onset diabetes mellitus in young 2023-12-20 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.
ITMI RCV000121187 SCV000085356 not provided not specified 2013-09-19 no assertion provided reference population

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