ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.268C>T (p.Arg90Cys)

gnomAD frequency: 0.00001  dbSNP: rs148513413
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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 RCV001218382 SCV001390263 uncertain significance Immunodeficiency 25 2022-07-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CD247-related conditions. This variant is present in population databases (rs148513413, gnomAD 0.1%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 90 of the CD247 protein (p.Arg90Cys). ClinVar contains an entry for this variant (Variation ID: 947324). 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV004034068 SCV003727638 uncertain significance not specified 2021-07-20 criteria provided, single submitter clinical testing The c.268C>T (p.R90C) alteration is located in exon 4 (coding exon 4) of the CD247 gene. This alteration results from a C to T substitution at nucleotide position 268, causing the arginine (R) at amino acid position 90 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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