ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His)

gnomAD frequency: 0.00002  dbSNP: rs372913827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253398 SCV001429082 pathogenic Oculofaciocardiodental syndrome 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568734 SCV003740267 uncertain significance Inborn genetic diseases 2022-09-22 criteria provided, single submitter clinical testing The c.5042G>A (p.R1681H) alteration is located in exon 15 (coding exon 14) of the BCOR gene. This alteration results from a G to A substitution at nucleotide position 5042, causing the arginine (R) at amino acid position 1681 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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