Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001037228 | SCV001200631 | uncertain significance | Hypertrophic cardiomyopathy | 2022-09-01 | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 836170). This variant has not been reported in the literature in individuals affected with MYOZ2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 166 of the MYOZ2 protein (p.Leu166Ser). |
| Ambry Genetics | RCV002337096 | SCV002642196 | uncertain significance | Cardiovascular phenotype | 2024-12-31 | criteria provided, single submitter | clinical testing | The p.L166S variant (also known as c.497T>C), located in coding exon 4 of the MYOZ2 gene, results from a T to C substitution at nucleotide position 497. The leucine at codon 166 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |