ClinVar Miner

Submissions for variant NM_175914.4(HNF4A):c.335G>A (p.Arg112Gln) (rs1085307913)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489797 SCV000577655 likely pathogenic not provided 2015-08-07 criteria provided, single submitter clinical testing The R112Q variant, that is likely pathogenic, has been published previously, as R125Q, in association with maturity onset diabetes of the young (MODY) (Harries et al, 2008). R112Q was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants at the same codon (R112W) and in nearby residues (G102S, M103I, A107D, V108I, D113Y/H, R114W, T117I) have been reported in the Human Gene Mutation Database in association with HNF4A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded
Athena Diagnostics Inc RCV000489797 SCV001476475 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing

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