ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419157 SCV002678655 uncertain significance Maturity onset diabetes mellitus in young 2019-02-08 criteria provided, single submitter clinical testing The p.S3R variant (also known as c.7A>C), located in coding exon 1 of the HNF4A gene, results from an A to C substitution at nucleotide position 7. The serine at codon 3 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
New York Genome Center RCV003228075 SCV003925105 uncertain significance Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2022-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003730143 SCV004525820 likely benign not provided 2023-02-27 criteria provided, single submitter clinical testing

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