Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812064 | SCV000952366 | uncertain significance | Myofibrillar myopathy 3 | 2022-08-23 | 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. ClinVar contains an entry for this variant (Variation ID: 655808). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 131 of the MYOT protein (p.Ala131Glu). |
Ambry Genetics | RCV002537365 | SCV003753123 | uncertain significance | Inborn genetic diseases | 2022-07-12 | criteria provided, single submitter | clinical testing | The c.392C>A (p.A131E) alteration is located in exon 3 (coding exon 2) of the MYOT gene. This alteration results from a C to A substitution at nucleotide position 392, causing the alanine (A) at amino acid position 131 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000812064 | SCV004236767 | uncertain significance | Myofibrillar myopathy 3 | 2023-06-15 | criteria provided, single submitter | clinical testing |