ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.223C>A (p.His75Asn)

dbSNP: rs1199174513
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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 RCV001070059 SCV001235268 uncertain significance Lymphoproliferative syndrome 2 2019-04-08 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 75 of the CD27 protein (p.His75Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CD27-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.

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