Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731979 | SCV000859853 | uncertain significance | not provided | 2018-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000794579 | SCV000933997 | uncertain significance | Myofibrillar myopathy 3 | 2022-08-03 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 596221). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs751876756, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 23 of the MYOT protein (p.Pro23Ser). |