Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000516381 | SCV000614145 | likely pathogenic | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002512824 | SCV003439235 | pathogenic | Myofibrillar myopathy 3 | 2022-10-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 39 of the MYOT protein (p.Ser39Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with MYOT-related conditions (PMID: 16380616, 22106715). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5839). |
Revvity Omics, |
RCV002512824 | SCV004238301 | likely pathogenic | Myofibrillar myopathy 3 | 2023-08-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002512824 | SCV000026378 | pathogenic | Myofibrillar myopathy 3 | 2005-12-27 | no assertion criteria provided | literature only |