ClinVar Miner

Submissions for variant NM_000733.4(CD3E):c.49+3G>A

gnomAD frequency: 0.00041  dbSNP: rs202200315
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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 RCV000651967 SCV000773824 uncertain significance Immunodeficiency 18 2024-01-29 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the CD3E gene. It does not directly change the encoded amino acid sequence of the CD3E protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs202200315, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CD3E-related conditions. ClinVar contains an entry for this variant (Variation ID: 541658). 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 is not likely to affect RNA splicing. 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.
Illumina Laboratory Services, Illumina RCV000651967 SCV001264712 uncertain significance Immunodeficiency 18 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994065 SCV004813693 benign not specified 2024-02-19 criteria provided, single submitter clinical testing

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