ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.308G>A (p.Arg103Lys)

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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 RCV002621650 SCV002959532 uncertain significance Immunodeficiency 25 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 103 of the CD247 protein (p.Arg103Lys). This variant is present in population databases (rs370910340, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CD247-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV004065884 SCV004922909 uncertain significance not specified 2024-01-31 criteria provided, single submitter clinical testing The c.308G>A (p.R103K) alteration is located in exon 5 (coding exon 5) of the CD247 gene. This alteration results from a G to A substitution at nucleotide position 308, causing the arginine (R) at amino acid position 103 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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