ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.6473del (p.Asn2158fs) (rs1562354784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785962 SCV000924545 likely pathogenic Coffin-Siris syndrome 1 2018-06-15 criteria provided, single submitter research The heterozygous p.Asn2158ThrfsTer2 variant was identified by our study in an individual with Coffin-Siris syndrome. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. Loss of function of the ARID1B gene is an established disease mechanism in Coffin-Siris syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.

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