ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.300G>A (p.Pro100=)

gnomAD frequency: 0.00004  dbSNP: rs541120315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224249 SCV001396436 uncertain significance Immunodeficiency 25 2022-08-15 criteria provided, single submitter clinical testing This sequence change affects codon 100 of the CD247 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CD247 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. This variant is present in population databases (rs541120315, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CD247-related conditions. ClinVar contains an entry for this variant (Variation ID: 952188). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GenomeConnect - Invitae Patient Insights Network RCV001224249 SCV001749467 not provided Immunodeficiency 25 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-18-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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