Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001199026 | SCV001370021 | likely pathogenic | Kleefstra syndrome 1 | 2018-12-12 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
Ambry Genetics | RCV003163501 | SCV003889598 | pathogenic | Inborn genetic diseases | 2023-02-10 | criteria provided, single submitter | clinical testing | The c.1311G>A (p.W437*) alteration, located in exon 8 (coding exon 8) of the EHMT1 gene, consists of a G to A substitution at nucleotide position 1311. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 437. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic. |