ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.872dup (p.Gly292fs) (rs587776825)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117225 SCV000151398 pathogenic Diabetes mellitus type 1 2013-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000490055 SCV000576668 pathogenic not provided 2018-07-13 criteria provided, single submitter clinical testing The c.872dupC variant in the HNF1A gene has been reported previously in association with maturity-onset diabetes of the young (Simms et al., 2011; Yamagata et al., 1996). The c.872dupC variant causes a frameshift starting with codon Glycine 292, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Gly292ArgfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 9/15992 (0.0563%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret c.872dupC as a pathogenic variant.
Athena Diagnostics Inc RCV000490055 SCV000613637 pathogenic not provided 2015-09-09 criteria provided, single submitter clinical testing
OMIM RCV000016062 SCV000036329 pathogenic Maturity-onset diabetes of the young, type 3 2005-03-01 no assertion criteria provided literature only
OMIM RCV000016063 SCV000036331 pathogenic Clear cell carcinoma of kidney 2005-03-01 no assertion criteria provided literature only
OMIM RCV000016064 SCV000036332 pathogenic Diabetes mellitus, insulin-dependent, 20 2005-03-01 no assertion criteria provided literature only
OMIM RCV000022617 SCV000043906 pathogenic Hepatic adenomas, familial 2005-03-01 no assertion criteria provided literature only

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