ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.417C>A (p.His139Gln)

gnomAD frequency: 0.00005  dbSNP: rs144098443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221429 SCV001393474 uncertain significance Lymphoproliferative syndrome 2 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 139 of the CD27 protein (p.His139Gln). This variant is present in population databases (rs144098443, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CD27-related conditions. ClinVar contains an entry for this variant (Variation ID: 949853). 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. 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.
Ambry Genetics RCV003259169 SCV003950382 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.417C>A (p.H139Q) alteration is located in exon 3 (coding exon 3) of the CD27 gene. This alteration results from a C to A substitution at nucleotide position 417, causing the histidine (H) at amino acid position 139 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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