ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.501CCA[6] (p.His172_Ala173insHis)

dbSNP: rs752012879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001689404 SCV001915066 benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689404 SCV003296021 uncertain significance not provided 2025-01-06 criteria provided, single submitter clinical testing This variant, c.264_266dup, results in the insertion of 1 amino acid(s) of the ARID1B protein (p.His89dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1283145). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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