Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000424803 | SCV000331973 | pathogenic | not provided | 2016-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000424803 | SCV000515894 | pathogenic | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing | Reported in a family with MYOT-related myopathy in published literature (Hauser et al., 2000); A mouse model carrying the equivalent variant in murine MYOT had progressive myofibrillar pathology including Z-disc streaming, excess myofibrillar vacuolization, and plaque-like myofibrillar aggregation (Garvey et al., 2006); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 21361873, 3275904, 30907627, 32721234, 10958653, 16801328) |
Invitae | RCV000639976 | SCV000761562 | pathogenic | Myofibrillar myopathy 3 | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 57 of the MYOT protein (p.Thr57Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with limb-girdle muscular dystrophy 1A in a large kindred (PMID: 3275904, 10958653). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5834). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects MYOT function (PMID: 16801328). For these reasons, this variant has been classified as Pathogenic. |
Athena Diagnostics | RCV000424803 | SCV000842842 | pathogenic | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000639976 | SCV002017710 | pathogenic | Myofibrillar myopathy 3 | 2023-03-06 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000639976 | SCV000026372 | pathogenic | Myofibrillar myopathy 3 | 2000-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000639976 | SCV000055883 | not provided | Myofibrillar myopathy 3 | no assertion provided | literature only |