ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.444G>A (p.Ser148=)

gnomAD frequency: 0.00228  dbSNP: rs147218489
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391830 SCV000402433 likely benign Renal cysts and diabetes syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001536935 SCV001753751 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820963 SCV002066863 benign not specified 2021-04-28 criteria provided, single submitter clinical testing
Invitae RCV001536935 SCV002353678 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464013 SCV002605441 benign 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 rs147218489, yet.
Ambry Genetics RCV002464013 SCV004076118 likely benign Maturity onset diabetes mellitus in young 2023-07-01 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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