Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998441 | SCV001154522 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001315774 | SCV001506366 | uncertain significance | Myofibrillar myopathy 3 | 2023-08-10 | 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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 287 of the MYOT protein (p.Gly287Arg). This variant is present in population databases (rs374221793, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. ClinVar contains an entry for this variant (Variation ID: 809804). 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 disruptive. |