Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004454962 | SCV004946083 | uncertain significance | not specified | 2024-01-08 | criteria provided, single submitter | clinical testing | The c.5078G>T (p.R1693L) alteration is located in exon 39 (coding exon 37) of the MYH7B gene. This alteration results from a G to T substitution at nucleotide position 5078, causing the arginine (R) at amino acid position 1693 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV005104684 | SCV005773052 | uncertain significance | not provided | 2024-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1693 of the MYH7B protein (p.Arg1693Leu). This variant is present in population databases (rs772339735, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MYH7B-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYH7B protein function with a negative predictive value of 80%. 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. |