ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.497T>G (p.Phe166Cys)

gnomAD frequency: 0.00022  dbSNP: rs139337300
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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 RCV001877080 SCV002135770 uncertain significance Lymphoproliferative syndrome 2 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 166 of the CD27 protein (p.Phe166Cys). This variant is present in population databases (rs139337300, gnomAD 0.05%). 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: 1370281). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002551086 SCV003713080 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.497T>G (p.F166C) alteration is located in exon 4 (coding exon 4) of the CD27 gene. This alteration results from a T to G substitution at nucleotide position 497, causing the phenylalanine (F) at amino acid position 166 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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