ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.27G>A (p.Ala9=)

gnomAD frequency: 0.00001  dbSNP: rs757294201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534902 SCV000642001 uncertain significance Immunodeficiency 25 2018-10-23 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on CD247 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with a CD247-related disease. This variant is present in population databases (rs757294201, ExAC 0.01%). This sequence change affects codon 9 of the CD247 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CD247 protein.

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