ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.495A>C (p.Ter165Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1651272129
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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 RCV001209387 SCV001380819 uncertain significance Immunodeficiency 25 2020-07-08 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. This sequence change disrupts the translational stop signal of the CD247 mRNA. It is expected to extend the length of the CD247 protein by 18 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CD247-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown.

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