ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002390074 SCV002707306 pathogenic Maturity onset diabetes mellitus in young 2017-03-03 criteria provided, single submitter clinical testing The p.C50* pathogenic mutation (also known as c.150C>A), located in coding exon 1 of the HNF1A gene, results from a C to A substitution at nucleotide position 150. This changes the amino acid from a cysteine to a stop codon within coding exon 1. 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.
Athena Diagnostics RCV003482409 SCV004229327 likely pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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