ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002342838 SCV002644279 uncertain significance Maturity onset diabetes mellitus in young 2019-09-20 criteria provided, single submitter clinical testing The p.Y166H variant (also known as c.496T>C), located in coding exon 2 of the HNF1A gene, results from a T to C substitution at nucleotide position 496. The tyrosine at codon 166 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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