ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)

dbSNP: rs539507291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001248890 SCV001422570 uncertain significance Maturity-onset diabetes of the young type 3 2020-01-22 criteria provided, single submitter curation The p.Gly288Trp variant in HNF1A has been reported in at least 1 individual with maturity-onset diabetes of the young (PMID: 25306193), and has been identified in 0.030% (3/9944) of Ashkenazi Jewish chromosomes and 0.011% (13/122942) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs539507291). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Gly288Trp variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BA1, PP3 (Richards 2015).
Ambry Genetics RCV002375309 SCV002684216 likely benign Maturity onset diabetes mellitus in young 2021-09-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002568693 SCV003257362 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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