ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1])

dbSNP: rs1562376911
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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 RCV002227766 SCV002506871 uncertain significance Coffin-Siris syndrome 1 2021-05-21 criteria provided, single submitter clinical testing The c.1057_1062del (p.Ser353_Ala354del) variant identified in the ARID1B gene is the deletion of 6 nucleotides resulting in the in-frame deletion of two amino acids 353-354/2320 (exon 1/19). This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database, although there is a similar in-frame deletion variant present there at low frequency (p.Ser353_Ala355del; allele frequency: 2.02e-5). This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Ser353 and p.Ala354 residues are not within a mapped domain of ARID1B (UniProtKB:Q8NFD5). Given the lack of compelling evidence for its pathogenicity, the c.1057_1062del (p.Ser353_Ala354del) variant identified in the ARID1B gene is reported as a Variant of Uncertain Significance.

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