ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.371C>G (p.Pro124Arg)

gnomAD frequency: 0.00002  dbSNP: rs373809759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788345 SCV000927417 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001238825 SCV001411654 uncertain significance Lymphoproliferative syndrome 2 2023-08-08 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CD27 protein function. ClinVar contains an entry for this variant (Variation ID: 636496). This variant has not been reported in the literature in individuals affected with CD27-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 124 of the CD27 protein (p.Pro124Arg). This variant is present in population databases (rs373809759, gnomAD 0.02%).
CeGaT Center for Human Genetics Tuebingen RCV000788345 SCV002497195 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing

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