ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.68del (p.Gly23fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CGC Genetics, Unilabs RCV004794720 SCV005400660 likely pathogenic Maturity-onset diabetes of the young type 1 2024-11-19 no assertion criteria provided clinical testing The variant NM_175914.5:c.68del p.(Gly23Alafs*81), detected in heterozygosity in exon 2 (of 10) of the HNF4A gene (chr.10), is reported in the literature in a Portuguese patient with MODY (PMID: 31968686). It is not reported gnomAD v4. It is a frameshift variant that introduces a premature stop codon, which in turn is expected to lead to the creation of a truncated protein and/or a reduction in its expression due to mRNA degradation. With the information currently available, this should be classified as a likely pathogenic variant with the following ACMG codes: PVS1; PM2_supporting.

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