Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414997 | SCV000493002 | pathogenic | Corpus callosum, agenesis of; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia | 2014-01-25 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196338 | SCV001366938 | pathogenic | Coffin-Siris syndrome 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. |
Ambry Genetics | RCV002524668 | SCV003616086 | pathogenic | Inborn genetic diseases | 2022-06-14 | criteria provided, single submitter | clinical testing | The c.1612C>T (p.Q538*) alteration, located in exon 2 (coding exon 2) of the ARID1B gene, consists of a C to T substitution at nucleotide position 1612. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 538. 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 alteration has been reported de novo in association with Coffin-Siris syndrome (van der Sluijs, 2019; Lee, 2021). Based on the available evidence, this alteration is classified as pathogenic. |
Gene |
RCV003313067 | SCV004012183 | pathogenic | not provided | 2023-01-04 | 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34706719, 30349098) |