Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177341 | SCV000229188 | uncertain significance | not provided | 2014-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001322454 | SCV001513327 | uncertain significance | Kleefstra syndrome 1 | 2023-07-26 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 196521). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces aspartic acid, which is acidic and polar, with isoleucine, which is neutral and non-polar, at codon 100 of the EHMT1 protein (p.Asp100Ile). |