ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)

gnomAD frequency: 0.00004  dbSNP: rs780554506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728863 SCV000856481 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397504 SCV002706226 likely benign Maturity onset diabetes mellitus in young 2021-12-16 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002397504 SCV002754393 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs780554506, yet.
Invitae RCV000728863 SCV003454864 likely benign not provided 2023-10-09 criteria provided, single submitter clinical testing

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