ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.830del (p.Phe277fs)

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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 RCV002430383 SCV002681961 pathogenic Maturity onset diabetes mellitus in young 2020-07-10 criteria provided, single submitter clinical testing The c.830delT pathogenic mutation, located in coding exon 4 of the HNF1A gene, results from a deletion of one nucleotide at nucleotide position 830, causing a translational frameshift with a predicted alternate stop codon (p.F277Sfs*65). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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