ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)

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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 RCV002637744 SCV003518136 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys684Glufs*6) in the DCLRE1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the DCLRE1C protein. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003111631 SCV003800847 uncertain significance not specified 2023-01-04 criteria provided, single submitter clinical testing Variant summary: DCLRE1C c.2050_2053delAAAA (p.Lys684GlufsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. However, this variant causes a truncation of less than 5 amino acids of the 692 amino acid protein. The variant was absent in 251144 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2050_2053delAAAA in individuals affected with Severe Combined Immunodeficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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