ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.427C>T (p.Gln143Ter)

gnomAD frequency: 0.00002  dbSNP: rs759213998
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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 RCV000536236 SCV000642004 uncertain significance Immunodeficiency 25 2020-10-20 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant has not been reported in the literature in individuals with CD247-related conditions. This variant is present in population databases (rs759213998, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Gln143*) in the CD247 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the CD247 protein.

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