ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)

dbSNP: rs765829022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV002222073 SCV002499551 uncertain significance Monogenic diabetes 2022-04-14 reviewed by expert panel curation The c.865C>T variant in the e.g. HNF1 homeobox A gene, HNF1A, causes an amino acid change of proline to serine at codon 289 (p.(Pro289Ser)) of NM_000545.8. This variant is also absent from gnomAD v2.1.1 (PM2_Supporting). This variant was identified in an individual with diabetes; however, the MODY probability is unable to be calculated due to age of diagnosis over 35; therefore, PP4 cannot be applied (internal lab contributors). Two other missense variants, c.866C>A (p.Pro289His) and c.866C>G (p.Pro289Arg), have been classified as VUS by the ClinGen MDEP; therefore PM5 will not be applied. In summary, c.865C>T meets the criteria to be classified as a variant of uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/21): PM2_Supporting.
GeneDx RCV001755274 SCV002005363 uncertain significance not provided 2020-02-07 criteria provided, single submitter clinical testing Has been reported in one patient with MODY; however further evidence such as segregation or functional studies, were not specified in this report (Bellanne-Chantelot etla., 2008); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18003757)
Fulgent Genetics, Fulgent Genetics RCV002488608 SCV002779536 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2024-05-31 criteria provided, single submitter clinical testing

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