ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)

dbSNP: rs193922577
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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 RCV001810404 SCV002059988 uncertain significance Monogenic diabetes 2021-12-31 reviewed by expert panel curation The c.1265T>C variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of leucine to proline at codon 1265 (p.(Leu422Pro)) of NM_000545.8. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, c.1265T>C 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 6/4/2021): PM2_Supporting
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030477 SCV000053147 likely pathogenic Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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