Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266425 | SCV001444599 | likely pathogenic | Inborn genetic diseases | 2021-05-03 | criteria provided, single submitter | clinical testing | The c.1514G>A (p.R505Q) alteration is located in exon 8 (coding exon 7) of the SMARCA2 gene. This alteration results from a G to A substitution at nucleotide position 1514, causing the arginine (R) at amino acid position 505 to be replaced by a glutamine (Q). Based on data from the Genome Aggregation Database (gnomAD), the SMARCA2 c.1514G>A alteration was not observed, with coverage at this position. The p.R505Q alteration was previously reported de novo in a patient with a neurodevelopmental disorder that included moderate developmental delay and intellectual disability, blepharophimosis, skeletal anomalies, and dysmorphic features but lacking the common facial gestalt of Nicolaides-Baraister syndrome (Cappuccio, 2020). Additionally, this alteration was reported once as de novo in a female patient in a cohort of individuals with developmental disorders (DDD, 2015). The p.R505 amino acid is conserved in available vertebrate species. The p.R505Q alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic. |
Gene |
RCV001559851 | SCV001782162 | pathogenic | not provided | 2023-06-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28191890, 31036916, 25533962, 31785789, 32694869) |
Fondazione Telethon, |
RCV001029747 | SCV001169152 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV001375918 | SCV001572898 | pathogenic | Blepharophimosis-impaired intellectual development syndrome | 2021-04-30 | no assertion criteria provided | literature only |