ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro)

gnomAD frequency: 0.00002  dbSNP: rs587778100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640951 SCV000762556 uncertain significance Oculofaciocardiodental syndrome 2022-08-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 133691). This variant has not been reported in the literature in individuals affected with BCOR-related conditions. 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 sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1711 of the BCOR protein (p.His1711Pro).
ITMI RCV000120219 SCV000084365 not provided not specified 2013-09-19 no assertion provided reference population

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