ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030535 SCV000053206 likely pathogenic Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000030535 SCV000926043 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Broad Institute Rare Disease Group, Broad Institute RCV000030535 SCV001423105 uncertain significance Renal cysts and diabetes syndrome 2020-01-22 no assertion criteria provided curation The p.Ala317Ser variant in HNF1B has been reported in at least 1 individual with Renal Cysts and Diabetes Syndrome in ClinVar (Variation ID: 36854), and has been identified in 0.008674% (3/34588) of Latino chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs193922492). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a carrier frequency. Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. This variant has also been reported likely pathogenic in ClinVar (Variation ID: 36854). In summary, the clinical significance of the p.Ala317Ser variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3 (Richards 2015).

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