Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000619125 | SCV000740225 | uncertain significance | Cardiovascular phenotype | 2024-10-08 | criteria provided, single submitter | clinical testing | The p.T250I variant (also known as c.749C>T), located in coding exon 5 of the MYOZ2 gene, results from a C to T substitution at nucleotide position 749. The threonine at codon 250 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Labcorp Genetics |
RCV001868136 | SCV002216992 | uncertain significance | Hypertrophic cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 250 of the MYOZ2 protein (p.Thr250Ile). This variant is present in population databases (rs774131437, gnomAD 0.002%). This missense change has been observed in individual(s) with left ventricular hypertrabeculation (PMID: 28798025). ClinVar contains an entry for this variant (Variation ID: 520376). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |