ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.1264A>G (p.Ser422Gly)

gnomAD frequency: 0.00010  dbSNP: rs202240562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003621504 SCV004561540 uncertain significance Oculofaciocardiodental syndrome 2023-04-02 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 133678). This variant has not been reported in the literature in individuals affected with BCOR-related conditions. This variant is present in population databases (rs202240562, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 422 of the BCOR protein (p.Ser422Gly).
ITMI RCV000120206 SCV000084352 not provided not specified 2013-09-19 no assertion provided reference population

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