ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) (rs754729248)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497653 SCV000589586 likely pathogenic not provided 2017-06-23 criteria provided, single submitter clinical testing The P379A variant has been published previously in association with MODY (Bellanné-Chantelot et al., 2008; Colclough et al., 2013; Ekholm et al., 2013). The variant is observed in 7/11394 (0.061%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). P379A is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Functional studies have shown P379A increases the activation of the CYP7A1 promoter compared to wild-type (Ekholm et al., 2013). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Fulgent Genetics,Fulgent Genetics RCV000762890 SCV000893280 pathogenic Diabetes mellitus type 1; Diabetes mellitus, insulin-dependent, 20; Maturity-onset diabetes of the young, type 3; Diabetes mellitus type 2; Hepatic adenomas, familial; Renal cell carcinoma, nonpapillary 2018-10-31 criteria provided, single submitter clinical testing

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