Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV002470386 | SCV002767762 | uncertain significance | Kleefstra syndrome 1 | 2019-08-28 | criteria provided, single submitter | clinical testing | A heterozygous missense variant, NM_024757.4(EHMT1):c.1845C>T, has been identified in exon 12 of 27 of the EHMT1 gene. The variant is predicted to result in a moderate amino acid change from lysine to asparagine at position 615 of the protein (NP_079033.4(EHMT1):p.(Lys615Asn)). The lysine residue at this position has low conservation (100 vertebrates, UCSC), but is not located within a well established functional domain. In silico predictions of pathogenicity for this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD) and has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS). |