Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000308292 | SCV000339372 | uncertain significance | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000308292 | SCV002251486 | uncertain significance | not provided | 2021-12-07 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 286087). This variant has not been reported in the literature in individuals affected with MYH14-related conditions. This variant is present in population databases (rs371272700, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 328 of the MYH14 protein (p.Arg328Trp). |