ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)

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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 RCV002401109 SCV002708923 uncertain significance Maturity onset diabetes mellitus in young 2018-11-16 criteria provided, single submitter clinical testing The p.Q541H variant (also known as c.1623G>C), located in coding exon 8 of the HNF1A gene, results from a G to C substitution at nucleotide position 1623. This change occurs in the last base pair of coding exon 8. The amino acid change results in glutamine to histidine at codon 541, an amino acid with highly 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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