ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Clinic, Geisinger Health System RCV002285541 SCV002562120 pathogenic Maturity-onset diabetes of the young type 3 2022-08-02 criteria provided, single submitter research PVS1, PM2, PP4
Ambry Genetics RCV002373066 SCV002691999 pathogenic Maturity onset diabetes mellitus in young 2021-01-14 criteria provided, single submitter clinical testing The p.W327* pathogenic mutation (also known as c.981G>A), located in coding exon 8 of the HNF4A gene, results from a G to A substitution at nucleotide position 981. This changes the amino acid from a tryptophan to a stop codon within coding exon 8. 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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