Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543818 | SCV000638815 | uncertain significance | Myofibrillar myopathy 3 | 2023-09-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs781353247, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ala125Leufs*5) in the MYOT gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYOT cause disease. This premature translational stop signal has been observed in individual(s) with clinical features of MYOT-related conditions (PMID: 32528171). ClinVar contains an entry for this variant (Variation ID: 464370). 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. |
Revvity Omics, |
RCV000543818 | SCV003810974 | uncertain significance | Myofibrillar myopathy 3 | 2021-10-26 | criteria provided, single submitter | clinical testing |