Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000817869 | SCV000958452 | uncertain significance | Kleefstra syndrome 1 | 2023-02-27 | 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 alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 167 of the EHMT1 protein (p.Ala167Asp). This variant is present in population databases (rs760239482, gnomAD 0.0009%). 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: 660630). 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 tolerated. |
| Ambry Genetics | RCV003372879 | SCV004085839 | uncertain significance | Inborn genetic diseases | 2023-07-26 | criteria provided, single submitter | clinical testing | The c.500C>A (p.A167D) alteration is located in exon 3 (coding exon 3) of the EHMT1 gene. This alteration results from a C to A substitution at nucleotide position 500, causing the alanine (A) at amino acid position 167 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |