ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.37G>T (p.Gly13Trp)

dbSNP: rs146726863
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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 RCV001992572 SCV002225078 uncertain significance Lymphoproliferative syndrome 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 13 of the CD27 protein (p.Gly13Trp). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and tryptophan. This variant is present in population databases (rs146726863, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CD27-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004603097 SCV005100186 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.37G>T (p.G13W) alteration is located in exon 1 (coding exon 1) of the CD27 gene. This alteration results from a G to T substitution at nucleotide position 37, causing the glycine (G) at amino acid position 13 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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