ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)

dbSNP: rs193922606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV002250406 SCV002520641 uncertain significance Monogenic diabetes 2022-04-15 reviewed by expert panel curation The c.872C>T variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of proline to leucine at codon 291 (p.(Pro291Leu)) of NM_000545.8. This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.00003680, which is greater than the MDEP threshold for BS1 (greater than or equal to 0.000033) (BS1). In summary, c.872C>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): BS1.
Fulgent Genetics, Fulgent Genetics RCV002481055 SCV002788084 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 2022-03-31 criteria provided, single submitter clinical testing

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