ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs) (rs1592121202)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001003474 SCV001161765 likely pathogenic COFFIN-SIRIS SYNDROME 6 2018-03-09 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PM2]; This alteration leads to a premature protein termination and loss-of-function of the ARID2 gene (OMIM: 609539) [PVS1] that is absent from large-scale population databases, including gnomAD [PM2]. Loss-of-function variants in the ARID2 gene have been described in individuals with autosomal dominant Coffin-Siris syndrome 6 (OMIM:617808).

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