Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002031622 | SCV002309202 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2023-01-14 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1524310). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 44 of the RET protein (p.Gln44His). |
| Ambry Genetics | RCV004044849 | SCV005028256 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-21 | criteria provided, single submitter | clinical testing | The p.Q44H variant (also known as c.132G>C), located in coding exon 2 of the RET gene, results from a G to C substitution at nucleotide position 132. The glutamine at codon 44 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |