Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262574 | SCV001440496 | pathogenic | Nicolaides-Baraitser syndrome | 2020-09-02 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Baylor Genetics | RCV003147603 | SCV003835134 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001262574 | SCV003835143 | pathogenic | Nicolaides-Baraitser syndrome | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004035396 | SCV005019744 | uncertain significance | Inborn genetic diseases | 2019-07-16 | criteria provided, single submitter | clinical testing | The p.R1105H variant (also known as c.3314G>A), located in coding exon 23 of the SMARCA2 gene, results from a G to A substitution at nucleotide position 3314. The arginine at codon 1105 is replaced by histidine, an amino acid with highly similar properties. This variant has been identified as de novo in an individual with SMARCA2-consistent phentoype (Santen GW et al. Hum. Mutat., 2013 Nov;34:1519-28). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |