ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.359C>T (p.Ala120Val)

gnomAD frequency: 0.00001  dbSNP: rs745871212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223436 SCV001395585 uncertain significance Immunodeficiency 25 2022-08-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 951502). This variant has not been reported in the literature in individuals affected with CD247-related conditions. This variant is present in population databases (rs745871212, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 120 of the CD247 protein (p.Ala120Val). 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: "Probably 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.
Neuberg Centre For Genomic Medicine, NCGM RCV001223436 SCV004046958 uncertain significance Immunodeficiency 25 criteria provided, single submitter clinical testing The missense variant c.359C>T (p.Ala120Val) in CD247 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Uncertain Significance. The p.Ala120Val variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.00001193 is reported in gnomAD. The amino acid Ala at position 120 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Ala120Val in CD247 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance
Breakthrough Genomics, Breakthrough Genomics RCV004691390 SCV005187032 uncertain significance not provided criteria provided, single submitter not provided

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