ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter)

dbSNP: rs1555154946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000656739 SCV002766769 pathogenic Coffin-Siris syndrome 6 2020-06-11 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 15 of 21). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants also predicted to result in an NMD predicted protein, have very strong previous evidence for pathogenicity (Decipher, PMID:30838730). (P) 0803 - Low previous evidence of pathogenicity in an individual with Coffin-Siris syndrome (ClinVar). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656739 SCV000778312 pathogenic Coffin-Siris syndrome 6 2018-05-09 no assertion criteria provided clinical testing The observed variant c.2521C>T (p.Gln841Ter) is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2.

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