Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001365644 | SCV001561920 | uncertain significance | Multiple endocrine neoplasia, type 2 | 2024-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 54 of the RET protein (p.His54Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 1056765). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Ambry Genetics | RCV004945077 | SCV005491082 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-11 | criteria provided, single submitter | clinical testing | The p.H54Y variant (also known as c.160C>T), located in coding exon 2 of the RET gene, results from a C to T substitution at nucleotide position 160. The histidine at codon 54 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |