ClinVar Miner

Submissions for variant NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) (rs147638455)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725499 SCV000337348 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764241 SCV000895244 uncertain significance Maturity-onset diabetes of the young, type 1; Diabetes mellitus type 2; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000725499 SCV000589599 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing The I441V variant has been reported in patients with MODY and type 2 diabetes mellitus as well as in unaffected individuals (Hellwege et al., 2011; Malecki et al., 1999; Carette et al., 2010; Chambers et al., 2015). The I441V variant was not observed at any significant frequency in large population cohorts, indicating it is not a common benign variant in these populations (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I441V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Integrated Genetics/Laboratory Corporation of America RCV000030015 SCV000052670 uncertain Maturity-onset diabetes of the young, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.

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