ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys)

dbSNP: rs2124788689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591706 SCV001815745 uncertain significance Intellectual disability, autosomal dominant 14 2020-07-24 criteria provided, single submitter clinical testing The c.1517C>G (p.Ser506Cys) variant identified in the ARID1A gene substitutes a moderately conserved Serine for Cysteine at amino acid 506/2286 (exon 3/20). This variant is absent from gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms do not agree on the effect of this variant, as it is predicted both Neutral (Provean; score:-1.68) and Damaging (SIFT; score:0.002) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Ser506 residue is not within a mapped domain of ARID1A (UniProtKB:O14497). Given the lack of compelling evidence for its pathogenicity, the c.1517C>G (p.Ser506Cys) variant identified in the ARID1A gene is reported as a Variant of Uncertain Significance.

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