ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)

gnomAD frequency: 0.00004  dbSNP: rs780342162
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992164 SCV001144209 uncertain significance not provided 2019-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488089 SCV002781276 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 2022-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992164 SCV003021994 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 120 of the HNF4A protein (p.Ser120Pro). This variant is present in population databases (rs780342162, gnomAD 0.03%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HNF4A protein function. ClinVar contains an entry for this variant (Variation ID: 804915). This variant has not been reported in the literature in individuals affected with HNF4A-related conditions.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148906 SCV003804624 uncertain risk allele Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in HNF4A are associated with poor insulin secretion in response to hyperglycemia. Associated with MODY1. Patients initially respond well to sulfonylureas but eventually become insulin dependent. However, more evidence is required to ascertain the role of this particular variant rs780342162 in MODY, yet.

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