ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1762C>T (p.Pro588Ser)

dbSNP: rs1029590003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247889 SCV002517183 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV002509761 SCV002818897 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Observed in an individual referred for genetic testing for maturity-onset diabetes of the young (MODY) but familial segregation information and additional clinical information were not included (Bellann-Chantelot et al., 2008).; In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21224407, 32041611, 18003757)

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