ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)

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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 RCV003827146 SCV004628585 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu661*) in the DCLRE1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the DCLRE1C protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Baylor Genetics RCV004573346 SCV005059354 uncertain significance Histiocytic medullary reticulosis 2024-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696569 SCV005190646 uncertain significance not provided criteria provided, single submitter not provided

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