ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3487C>T (p.Pro1163Ser)

dbSNP: rs2124104504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547299 SCV005042749 uncertain significance Coffin-Siris syndrome 1 criteria provided, single submitter clinical testing The missense variant c.3487C>T p.Pro1163Ser in the ARID1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Proline at position 1163 is changed to a Serine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Pro1163Ser in ARID1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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