Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501442 | SCV000596105 | uncertain significance | not specified | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000719731 | SCV000850601 | likely benign | History of neurodevelopmental disorder | 2018-01-05 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification |
Invitae | RCV000802544 | SCV000942381 | uncertain significance | Beckwith-Wiedemann syndrome | 2018-10-02 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with cysteine at codon 822 of the NSD1 protein (p.Ser822Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs377684553, ExAC 0.02%). This variant has been observed in an individual affected with autism and macroecephaly; this variant was inherited from an unaffected mother and present in an unaffected sibling (PMID: 18001468). ClinVar contains an entry for this variant (Variation ID: 436060). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |