Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001222286 | SCV001394380 | uncertain significance | Myofibrillar myopathy 3 | 2023-03-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 78 of the MYOT protein (p.Gly78Ser). ClinVar contains an entry for this variant (Variation ID: 950553). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |
| Revvity Omics, |
RCV001222286 | SCV003817865 | uncertain significance | Myofibrillar myopathy 3 | 2019-05-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003163718 | SCV003901501 | uncertain significance | Inborn genetic diseases | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.232G>A (p.G78S) alteration is located in exon 2 (coding exon 1) of the MYOT gene. This alteration results from a G to A substitution at nucleotide position 232, causing the glycine (G) at amino acid position 78 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |