Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000389897 | SCV000331501 | uncertain significance | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513830 | SCV003505579 | uncertain significance | Myofibrillar myopathy 3 | 2022-05-04 | 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. ClinVar contains an entry for this variant (Variation ID: 95436). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs758263578, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Lys36Serfs*22) 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. |