ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)

dbSNP: rs1057518951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana 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, University Medical Centre Ljubljana 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.
GeneDx 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)

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