Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041005 | SCV001204599 | uncertain significance | Kleefstra syndrome 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1178 of the EHMT1 protein (p.Asp1178Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 839287). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EHMT1 protein function with a negative predictive value of 80%. 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. |
New York Genome Center | RCV001041005 | SCV002099234 | uncertain significance | Kleefstra syndrome 1 | 2021-04-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552497 | SCV003680945 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.3532G>A (p.D1178N) alteration is located in exon 25 (coding exon 25) of the EHMT1 gene. This alteration results from a G to A substitution at nucleotide position 3532, causing the aspartic acid (D) at amino acid position 1178 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |