Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002883017 | SCV003634129 | uncertain significance | Inborn genetic diseases | 2022-07-12 | criteria provided, single submitter | clinical testing | The c.1378T>C (p.F460L) alteration is located in exon 10 (coding exon 9) of the MYOT gene. This alteration results from a T to C substitution at nucleotide position 1378, causing the phenylalanine (F) at amino acid position 460 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003108189 | SCV003783980 | uncertain significance | Myofibrillar myopathy 3 | 2022-11-23 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs765499949, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 460 of the MYOT protein (p.Phe460Leu). |
| Gene |
RCV003159242 | SCV003853236 | uncertain significance | not provided | 2022-09-29 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |