ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1768+65dup

dbSNP: rs193922590
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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 RCV002250355 SCV002520664 uncertain significance Monogenic diabetes 2022-05-04 reviewed by expert panel curation The c.1768+65dupC variant in the HNF1 homeobox A gene, HNF1A, is a single nucleotide variant within intron 9 of NM_000545.8. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The computational splicing predictor SpliceAI gives a score of 0.0 for donor loss, suggesting that the variant has no impact on splicing (BP4). In summary, c.1768+65dupC 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 9/30/2021): PM2_Supporting, BP4.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030493 SCV000053164 uncertain Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.

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