ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly)

gnomAD frequency: 0.00058  dbSNP: rs140897453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862923 SCV001003496 benign Oculofaciocardiodental syndrome 2023-02-04 criteria provided, single submitter clinical testing
GeneDx RCV005051750 SCV005686004 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ITMI RCV000120222 SCV000084368 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004551184 SCV004723743 likely benign BCOR-related disorder 2023-12-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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