Submissions for variant NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)

dbSNP: rs1553153783

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	RCV001175158	SCV001251977	likely pathogenic	Intellectual disability, autosomal dominant 14		criteria provided, single submitter	clinical testing	Using trio exome sequencing and analysis of the genes with the ten highest PEDIA values ​​(PMID: 31164752), the patient was able to detect a probably pathogenic missense variant in exon 12 of the AR / D1A gene (NM_006015). This variant could not be demonstrated in the parents, which is why it is highly likely that the patient was newly created (de novo). The name of the variant is: c.6518A> T; p.Asn2173Ile). This variant has not yet been recorded in population-related and phenotype-related databases. Another base exchange at the same nucleotide position (c.6518A> G; p. (Asn2173Ser)) is listed in the phenotype-related database ClinVar as a variant of unclear functional relevance. In these databases and in publications, predominantly truncating variants in the ARID1A gene are considered pathogenic. The mutation prediction programs MutationTaster, SIFT and PolyPhen-2 assess the variant as pathogenic; the CADD score is 26.2. It is a moderately conserved amino acid that lies in an Armadillo-type fold. The ACMG classification of the variant is: probably pathogenic (Class 4: PS2, PM2, PP3, BP1 (strong).