Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001960320 | SCV002218139 | uncertain significance | not provided | 2023-05-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. Studies have shown that this variant does not significantly alter or has an unclear effect on HNF4A gene expression (PMID: 12242469). ClinVar contains an entry for this variant (Variation ID: 1442643). This variant has been observed in individual(s) with HNF4A-related conditions, however it has also been observed in unaffected controls (PMID: 12242469, 21062274). This variant occurs in a non-coding region of the HNF4A gene. It does not change the encoded amino acid sequence of the HNF4A protein. |
Fulgent Genetics, |
RCV002507656 | SCV002816132 | likely benign | Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2024-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001960320 | SCV005202011 | uncertain significance | not provided | 2024-03-07 | criteria provided, single submitter | clinical testing | Observed in two unrelated individuals in published literature with maturity onset diabetes of the young (MODY); however, the variant did not segregate completely with the condition in the family of one proband and familial segregation information was not provided for the other proband (PMID: 12242469, 21062274); In-silico analysis and one published study are inconclusive as to whether the variant alters gene function (PMID: 12242469). In the absence of additional RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 12242469, 23014256, 21062274) |