Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000850475 | SCV000992673 | likely pathogenic | Marfanoid habitus and intellectual disability | criteria provided, single submitter | research | ||
Gene |
RCV002274105 | SCV002559712 | pathogenic | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32277047) |
Ambry Genetics | RCV003279125 | SCV003963124 | pathogenic | Inborn genetic diseases | 2023-04-11 | criteria provided, single submitter | clinical testing | The c.1468C>T (p.R490*) alteration, located in exon 9 (coding exon 9) of the EHMT1 gene, consists of a C to T substitution at nucleotide position 1468. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 490. 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). This variant has been determined to be the result of a de novo mutation in an individual with features consistent with EHMT1-related Kleefstra syndrome (Pan, 2023) and in an individual with intellectual disability and unspecified skeletal features (Chevarin, 2020). Based on the available evidence, this alteration is classified as pathogenic. |